ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)

gnomAD frequency: 0.00001  dbSNP: rs140600746
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000203324 SCV000793461 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003556259 SCV004293676 pathogenic not provided 2024-04-07 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with lysine, which is basic and polar, at codon 700 of the MUT protein (p.Met700Lys). This variant is present in population databases (rs140600746, gnomAD 0.0009%). This missense change has been observed in individual(s) with methylmalonic aciduria (PMID: 15643616, 16281286). ClinVar contains an entry for this variant (Variation ID: 218997). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MUT protein function. Experimental studies have shown that this missense change affects MUT function (PMID: 25125334). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000203324 SCV000258512 not provided Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency no assertion provided literature only

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