ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr)

dbSNP: rs753564352
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000186050 SCV000239014 pathogenic not provided 2022-03-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31622506, 27233228, 26483233, 31466887, 32778825, 33413471, 34668645, 35223700)
Labcorp Genetics (formerly Invitae), Labcorp RCV000186050 SCV001220092 pathogenic not provided 2024-05-29 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 555 of the MUT protein (p.Ala555Thr). This variant is present in population databases (rs753564352, gnomAD 0.03%). This missense change has been observed in individual(s) with methylmalonic aciduria (PMID: 26483233, 27233228; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 203850). 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.
Fulgent Genetics, Fulgent Genetics RCV000210837 SCV002804212 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-11-03 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital RCV000210837 SCV000267122 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2013-05-05 no assertion criteria provided research

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