ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1532G>A (p.Arg511Gln)

gnomAD frequency: 0.00002  dbSNP: rs776065390
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002568615 SCV001418383 uncertain significance not provided 2022-08-09 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 511 of the MUT protein (p.Arg511Gln). This variant is present in population databases (rs776065390, gnomAD 0.006%). 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: 969709). 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.
Natera, Inc. RCV001836233 SCV002077372 uncertain significance Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2020-08-03 no assertion criteria provided clinical testing

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