ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1287G>T (p.Thr429=)

dbSNP: rs141819282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000907049 SCV001051730 likely benign Glutaric aciduria, type 1 2023-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002382060 SCV002691542 likely benign Inborn genetic diseases 2020-09-24 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003895517 SCV004715050 likely benign GCDH-related disorder 2023-01-04 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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