ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) (rs780387525)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665776 SCV000789948 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-03-01 criteria provided, single submitter clinical testing
Invitae RCV000665776 SCV001234141 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-12-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 324 of the MUT protein (p.Ala324Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another MUT variant in individual(s) with methylmalonic aciduria (PMID: 15781192, 16281286, 17957493). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 550893). 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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