Record detail

Record identity

Record ID

a5d85b03a4fd9c22a95ac9d1

Release version

webdb_threshold_completion_missing10_20260508

PMID

32421718 PubMed

Title

Large scale analyses of genotype-phenotype relationships of glycine decarboxylase mutations and neurological disease severity.

Journal

PLoS computational biology

Year

2020

DOI

10.1371/journal.pcbi.1007871

PMC

PMC7259800 PMC

Variant information

This section prioritizes normalized variant expressions where available. Non-standard source strings are not shown as canonical HGVS.

Gene

GLDC

Query variant

NM_000170.3:c.832G>A

Normalized c.HGVS

c.832G>A

Normalized p.HGVS

p.(Glu278Lys)

Representative genomic HGVS

CM000671.1:g.6605160C>T

Genomic HGVS aliases

CM000671.1:g.6605160C>T; CM000671.2:g.6605160C>T; LRG_643:g.45533G>A; NC_000009.10:g.6595160C>T; NC_000009.11:g.6605160C>T; NC_000009.12:g.6605160C>T; and 1 more

CoGenEx-PM3 evidence

Evidence status is assigned at the PMID × variant level and should not be interpreted as a final variant-level pathogenicity classification.

Evidence status

Phase-unconfirmed biallelic evidence

Query-evidence confidence

Needs review

Llm Review Not Conclusive For Removal

Phase-confirmed PM3 evidence

No

Phase-unconfirmed biallelic evidence

Yes

Other patient-level evidence

No

PM3 context

Possible compound heterozygous with A64T

PM3 evidence items

1

Allelic configuration type

Compound heterozygous candidate

Retained partner variants

• A64T

Partner variants are retained structured tokens from CoGenEx-PM3 evidence items. They are not transcript-normalized in this release.

Candidate context and target validation

Candidate context windows are places selected for audit because the query or its aliases may be relevant. They are not the same as a validated match to the target c.HGVS or p.HGVS expression.

Candidate context

Candidate context retained: 2 text windows and 2 table windows

Context status

Found in final retained audit context

Text candidate windows

2

Table candidate windows

2

Target c.HGVS validated

No

Target p.HGVS validated

Yes

Target validation

Target variant matched with phase-unconfirmed biallelic evidence

Source provenance

Reviewed source

Supplementary material

Supplement used by audit

Yes

Supplement available

Yes

Reviewed document format

NXML/JATS full text

Evidence context scope

Supplement-focused audit context

Evidence location

Supp

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