ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.281G>T (p.Gly94Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814597 SCV000955010 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-08-10 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 94 of the MUT protein (p.Gly94Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is present in population databases (rs535411418, ExAC 0.01%). This variant has been observed in combination with another MUT variant several individuals affected with methylmalonic aciduria (PMID: 9285782, 16281286). Experimental studies have shown that this missense change disrupts MUT enzymatic activity (PMID: 9285782). For these reasons, this variant has been classified as Pathogenic.

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