ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.935G>T (p.Gly312Val)

gnomAD frequency: 0.00003  dbSNP: rs864309734
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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 RCV001377310 SCV001574612 pathogenic not provided 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 312 of the MUT protein (p.Gly312Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with methylmalonic aciduria (PMID: 16281286, 26790480). ClinVar contains an entry for this variant (Variation ID: 218988). 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 MUT protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000203346 SCV000258501 not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency no assertion provided literature only
Natera, Inc. RCV001833169 SCV002077388 likely pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2021-05-10 no assertion criteria provided clinical testing

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