ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln)

gnomAD frequency: 0.00013  dbSNP: rs148285323
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002534826 SCV000946418 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 593 of the MUT protein (p.Glu593Gln). This variant is present in population databases (rs148285323, gnomAD 0.04%). 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: 651129). 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: "Benign"; 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.
Fulgent Genetics, Fulgent Genetics RCV000806421 SCV002785109 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-03-31 criteria provided, single submitter clinical testing
Natera, Inc. RCV001825598 SCV002077364 uncertain significance Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2020-08-25 no assertion criteria provided clinical testing

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