ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.583G>A (p.Ala195Thr)

dbSNP: rs2145950460
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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 RCV001945339 SCV002193432 pathogenic Glutaric aciduria, type 1 2023-10-23 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 195 of the GCDH protein (p.Ala195Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with glutaric acidemia type I (PMID: 9600243, 32240488). ClinVar contains an entry for this variant (Variation ID: 1414622). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt GCDH protein function. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003154220 SCV003842916 likely pathogenic not provided 2022-09-19 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 10960496, 15505393, 9711871, 32556492, 32240488, 9600243, 11015709)
Baylor Genetics RCV001945339 SCV005058939 pathogenic Glutaric aciduria, type 1 2024-03-27 criteria provided, single submitter clinical testing

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