ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1880A>G (p.His627Arg) (rs372486357)

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Total submissions: 2
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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 RCV000666980 SCV000958090 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-07-23 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 variant has been observed in combination with another MUT variant in individuals affected with 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.

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