ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys)

gnomAD frequency: 0.00058  dbSNP: rs2228282
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002281120 SCV000763813 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 279 of the MUT protein (p.Tyr279Cys). This variant is present in population databases (rs2228282, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with MUT-related conditions. ClinVar contains an entry for this variant (Variation ID: 534565). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
GeneDx RCV002281120 SCV002569606 uncertain significance not provided 2022-09-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 27527004)
Natera, Inc. RCV001271803 SCV001453243 uncertain significance Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2019-11-11 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004752979 SCV005345025 likely benign MMUT-related disorder 2024-03-28 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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