ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys)

gnomAD frequency: 0.00001  dbSNP: rs770978452
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001998759 SCV002275894 uncertain significance not provided 2022-08-23 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 610 of the MUT protein (p.Arg610Cys). This variant is present in population databases (rs770978452, gnomAD 0.004%). 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: 1483409). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Fulgent Genetics, Fulgent Genetics RCV002492233 SCV002781998 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-07-13 criteria provided, single submitter clinical testing

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