GLEAM-DB

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Input query
Recognized gene
GTPBP3
Normalized c.HGVS
c.1202G>C, c.1228G>A, c.1291C>T, c.1304A>C, c.136T>G and 14 more
Normalized p.HGVS
p.(Ala222Asp), p.(Ala410Thr), p.(Arg238Pro), p.(Arg242His), p.(Arg3Leu) and 13 more
Matching records
36
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.

Download current query results as TSV
Gene Variant Evidence PM3 context Publication Reviewed source Actions
GTPBP3 NM_032620.4:c.1432G>C Phase-unconfirmed biallelic evidence
High confidence
Confirmed in trans with c.566G > A; p.R189H
context: Confirmed in trans
 39397867
Mutations in GTPBP3 cause aberrant mitochondrial respiration associated with combined oxidative phosphorylation deficiency 23.
Genes & diseases, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.836C>T Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 38515655
A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing.
Heliyon, 2024
 Supplementary material
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 38515655
A novel mutation in GTPBP3 causes combined oxidative phosphorylation deficiency 23 by affecting pre-mRNA splicing.
Heliyon, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.665C>A Phase-unconfirmed biallelic evidence
Needs review
Possible compound heterozygous with 665‐2delA; Asp223_Ser270del; Asp223_Ser270del
context: Compound heterozygous candidate
 38327089
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Annals of clinical and translational neurology, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.836C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 38327089
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Annals of clinical and translational neurology, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Confirmed in trans with c.[934_957del]; p.[Gly312_Val319del]; del
context: Confirmed in trans
 38327089
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
Annals of clinical and translational neurology, 2024
 Main article
Open
GTPBP3 NM_032620.4:c.836C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 36980825
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Genes, 2023
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.934_957del; p.Gly312_Val319del
context: Compound heterozygous candidate
 36980825
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Genes, 2023
 Main article
Open
GTPBP3 NM_032620.4:c.665C>A Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 34276756
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Frontiers in genetics, 2021
 Main article
Open
GTPBP3 NM_032620.4:c.836C>T Phase-unconfirmed biallelic evidence
High confidence
Homozygous for query variant
context: Homozygous evidence
 34276756
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Frontiers in genetics, 2021
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.934_957del; Gly312_Val319del
context: Compound heterozygous candidate
 34276756
Novel Mutations in the GTPBP3 Gene for Mitochondrial Disease and Characteristics of Related Phenotypic Spectrum: The First Three Cases From China.
Frontiers in genetics, 2021
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
Needs review
Homozygous for query variant
context: Homozygous evidence
 33619562
The human tRNA taurine modification enzyme GTPBP3 is an active GTPase linked to mitochondrial diseases.
Nucleic acids research, 2021
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.923_947del; p.E309Rfs
context: Compound heterozygous candidate
 28429146
Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.
Journal of inherited metabolic disease, 2017
 Main article
Open
GTPBP3 NM_032620.4:c.8G>T Phase-unconfirmed biallelic evidence
High confidence
Possible compound heterozygous with c.923-947del; p.E309fs
context: Compound heterozygous candidate
 26741492
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
PLoS genetics, 2016
 Main article
Open
GTPBP3 NM_032620.4:c.544G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 36344544
Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.
Nature communications, 2022
 Main article
Open
GTPBP3 NM_032620.4:c.1228G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31613873
Experimental evolution reveals a general role for the methyltransferase Hmt1 in noise buffering.
PLoS biology, 2019
 Main article and supplement
Open
GTPBP3 NM_032620.4:c.931G>A No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31613873
Experimental evolution reveals a general role for the methyltransferase Hmt1 in noise buffering.
PLoS biology, 2019
 Main article and supplement
Open
GTPBP3 NM_032620.4:c.931G>T No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31613873
Experimental evolution reveals a general role for the methyltransferase Hmt1 in noise buffering.
PLoS biology, 2019
 Main article and supplement
Open
GTPBP3 NM_032620.4:c.827T>C No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 31597922
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific reports, 2019
 Main article
Open
GTPBP3 NM_032620.4:c.136T>G No PM3 Evidence Identified
Not assessed
No PM3 candidate genotype identified 30545397
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal of hematology & oncology, 2018
 Main article
Open