ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) (rs764173488)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666288 SCV000790554 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-03-28 criteria provided, single submitter clinical testing
Invitae RCV000666288 SCV000829948 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu494*) in the MUT gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs764173488, ExAC 0.01%). This variant has been reported in multiple individuals affected with methylmalonic acidemia (PMID: 23479330, 16490061). 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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