ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys)

gnomAD frequency: 0.00001  dbSNP: rs1555751336
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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 RCV000539888 SCV000631931 uncertain significance Glutaric aciduria, type 1 2023-12-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 397 of the GCDH protein (p.Glu397Lys). 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: 29665094, 32508882). ClinVar contains an entry for this variant (Variation ID: 459948). 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 with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Revvity Omics, Revvity RCV000539888 SCV003814494 uncertain significance Glutaric aciduria, type 1 2019-02-12 criteria provided, single submitter clinical testing
Baylor Genetics RCV000539888 SCV005058942 pathogenic Glutaric aciduria, type 1 2024-03-12 criteria provided, single submitter clinical testing

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