ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) (rs1554160246)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672926 SCV000798082 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-02-21 criteria provided, single submitter clinical testing
Invitae RCV001389294 SCV001590604 pathogenic not provided 2020-04-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 305 of the MUT protein (p.Leu305Ser). The leucine residue is highly conserved and there is a large physicochemical difference between leucine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with methylmalonic academia (PMID: 16281286, 27167370, 22727635, 29896740). 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: 556865). 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.

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