ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) (rs769348060)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669290 SCV000794029 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV000669290 SCV001237344 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 86 of the MUT protein (p.Pro86Leu). The proline residue is highly conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs769348060, ExAC 0.01%). This variant has been observed to be homozygous or in combination with another MUT variant in several individuals affected with methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency (PMID: 16281286, 27233228, 24330302). ClinVar contains an entry for this variant (Variation ID: 553773). 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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