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Recognized gene
DARS2
Normalized c.HGVS
c.1063T>A, c.106A>G, c.1246A>G, c.1433T>C, c.1726C>T and 9 more
Normalized p.HGVS
p.(Arg125His), p.(Arg170Trp), p.(Arg31Gly), p.(Arg609Trp), p.(Asn416Asp) and 8 more
Matching records
30
PM3-positive records
14
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| DARS2 |
NM_018122.5:c.508C>T
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.228‐16C>A
context: Confirmed in trans
|
34631948
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation: A Novel DARS2 Mutation and Intra-Familial Heterogeneity.
Movement disorders clinical practice, 2021
|
Main article | |
| DARS2 |
NM_018122.5:c.473A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.829 G > A; p.E277K
context: Compound heterozygous candidate
|
41315317
A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.
NPJ genomic medicine, 2025
|
Main article | |
| DARS2 |
NM_018122.5:c.829G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.473 A > T; p.E158V
context: Compound heterozygous candidate
|
41315317
A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.
NPJ genomic medicine, 2025
|
Main article | |
| DARS2 |
NM_018122.5:c.473A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.829G > A; p.E277K
context: Compound heterozygous candidate
|
37563224
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Scientific reports, 2023
|
Main article | |
| DARS2 |
NM_018122.5:c.829G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.473A > T; p.E158V
context: Compound heterozygous candidate
|
37563224
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Scientific reports, 2023
|
Main article | |
| DARS2 |
NM_018122.5:c.473A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.829G > A
context: Compound heterozygous candidate
|
36909591
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Research square, 2023
|
Main article | |
| DARS2 |
NM_018122.5:c.829G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.473A > T
context: Compound heterozygous candidate
|
36909591
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing.
Research square, 2023
|
Main article | |
| DARS2 |
NM_018122.5:c.473A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.829G>A; Glu277Lys; p.Glu277Lys
context: Confirmed in trans
|
35820270
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Molecular genetics and metabolism, 2022
|
Main article | |
| DARS2 |
NM_018122.5:c.1825C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
34140924
Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.
Frontiers in neurology, 2021
|
Main article | |
| DARS2 |
NM_018122.5:c.469T>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: PM3 evidence context not structured
|
33977142
LBSL: Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations.
Neurology. Genetics, 2021
|
Main article | |
| DARS2 |
NM_018122.5:c.228-12C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
33574740
The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.
Frontiers in cellular neuroscience, 2021
|
Main article | |
| DARS2 |
NM_018122.5:c.374G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with G338E
context: Compound heterozygous candidate
|
33574740
The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.
Frontiers in cellular neuroscience, 2021
|
Main article | |
| DARS2 |
NM_018122.5:c.1825C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
32443735
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
International journal of molecular sciences, 2020
|
Main article | |
| DARS2 |
NM_018122.5:c.1433T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.[228‐20_-21 delTTinsC]; p.[R76Sfs*5]; delTTinsC
context: Compound heterozygous candidate
|
28334938
Clinical and genetic characterization of leukoencephalopathies in adults.
Brain : a journal of neurology, 2017
|
Main article | |
| DARS2 |
NM_018122.5:c.374G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
32308605
A New DARS2 Mutation Discovered in an Adult Patient.
Case reports in neurology, 2020
|
Main article | |
| DARS2 |
NM_018122.5:c.228-12C>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
37460657
Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18.
European journal of human genetics : EJHG, 2023
|
Main article | |
| DARS2 |
NM_018122.5:c.829G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35820270
Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation.
Molecular genetics and metabolism, 2022
|
Unknown | |
| DARS2 |
NM_018122.5:c.228-12C>A
|
No PM3 Evidence Identified
Low confidence
|
No PM3 candidate genotype identified |
35379322
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Genome medicine, 2022
|
Supplementary material | |
| DARS2 |
NM_018122.5:c.374G>A
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
35054398
Spinal Cord Involvement in Adult Mitochondrial Diseases: A Cohort Study.
Life (Basel, Switzerland), 2021
|
Main article | |
| DARS2 |
NM_018122.5:c.1825C>T
|
No PM3 Evidence Identified
Not assessed
|
No PM3 candidate genotype identified |
33574740
The Leukodystrophies HBSL and LBSL-Correlates and Distinctions.
Frontiers in cellular neuroscience, 2021
|
Main article | |