ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.157C>T (p.Pro53Ser)

gnomAD frequency: 0.00001  dbSNP: rs768532620
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001245375 SCV001418658 pathogenic Glutaric aciduria, type 1 2023-12-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 53 of the GCDH protein (p.Pro53Ser). This variant is present in population databases (rs768532620, gnomAD 0.002%). This missense change has been observed in individual(s) with glutaric aciduria type I (PMID: 15505393, 22728054). ClinVar contains an entry for this variant (Variation ID: 969919). 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 95%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001245375 SCV002810562 likely pathogenic Glutaric aciduria, type 1 2021-11-04 criteria provided, single submitter clinical testing

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