ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) (rs778702777)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000203339 SCV000795735 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-11-16 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001091103 SCV001246958 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Invitae RCV000203339 SCV001385264 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-10-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 203 of the MUT protein (p.Gly203Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs778702777, ExAC 0.003%). This variant has been observed in several individuals with methylmalonic aciduria (PMID: 10923046, 17432548, 19375370, 16281286). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 218987). 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"). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000203339 SCV000258498 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2016-01-07 no assertion criteria provided literature only

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