ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1400G>A (p.Arg467Gln)

gnomAD frequency: 0.00001  dbSNP: rs147737629
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001239758 SCV001412655 uncertain significance not provided 2022-08-23 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 467 of the MUT protein (p.Arg467Gln). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 965332). 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: "Possibly 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.
Fulgent Genetics, Fulgent Genetics RCV002484311 SCV002786672 uncertain significance Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-03-12 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834102 SCV002077375 uncertain significance Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2020-01-29 no assertion criteria provided clinical testing

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