ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg)

dbSNP: rs121918254
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673187 SCV000798362 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003558522 SCV004293679 pathogenic not provided 2024-10-24 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 623 of the MUT protein (p.Gly623Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with methylmalonic acidemia (PMID: 7909321, 15643616, 16281286, 19375370). ClinVar contains an entry for this variant (Variation ID: 557096). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt MUT protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.

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