ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1880A>G (p.His627Arg)

gnomAD frequency: 0.00002  dbSNP: rs372486357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666980 SCV000791361 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-05-16 criteria provided, single submitter clinical testing
Invitae RCV001389281 SCV001590585 pathogenic not provided 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces histidine with arginine at codon 627 of the MUT protein (p.His627Arg). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and arginine. This variant is present in population databases (rs372486357, ExAC 0.003%). This missense change has been observed in individual(s) with clinical features of methylmalonic aciduria (PMID: 10923046, 15643616, 23430940, 26454439). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000666980 SCV002785670 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-01-27 criteria provided, single submitter clinical testing
Natera, Inc. RCV001829838 SCV002077362 pathogenic Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency 2021-08-26 no assertion criteria provided clinical testing

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