ClinVar Miner

Submissions for variant NM_000159.4(GCDH):c.242C>G (p.Pro81Arg)

gnomAD frequency: 0.00001  dbSNP: rs780408127
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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 RCV000795220 SCV000934666 uncertain significance Glutaric aciduria, type 1 2023-12-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 81 of the GCDH protein (p.Pro81Arg). This variant is present in population databases (rs780408127, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with GCDH-related conditions. ClinVar contains an entry for this variant (Variation ID: 641879). 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.
Ambry Genetics RCV002458424 SCV002737363 uncertain significance Inborn genetic diseases 2021-10-01 criteria provided, single submitter clinical testing The p.P81R variant (also known as c.242C>G), located in coding exon 3 of the GCDH gene, results from a C to G substitution at nucleotide position 242. The proline at codon 81 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV000795220 SCV001454367 uncertain significance Glutaric aciduria, type 1 2020-09-16 no assertion criteria provided clinical testing

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