ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1194_1195TG[1] (p.Val399fs) (rs1227030642)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000701062 SCV000829844 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2018-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val399Glufs*24) in the MUT gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in an individual affected with methylmalonic acidemia (PMID: 16281286). Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic.

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