ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1015A>G (p.Met339Val)

gnomAD frequency: 0.00001  dbSNP: rs752234195
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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 RCV000671046 SCV002230042 pathogenic Glutaric aciduria, type 1 2023-08-04 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 339 of the GCDH protein (p.Met339Val). This variant is present in population databases (rs752234195, gnomAD 0.008%). This missense change has been observed in individual(s) with glutaric acidemia type I (PMID: 9856558, 21176883, 34504725). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 555257). 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 not expected to disrupt GCDH protein function. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV000671046 SCV004199235 pathogenic Glutaric aciduria, type 1 2023-07-20 criteria provided, single submitter clinical testing
Counsyl RCV000671046 SCV000795986 uncertain significance Glutaric aciduria, type 1 2017-11-27 flagged submission clinical testing

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