ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) (rs1554161054)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000551650 SCV000793657 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-08-22 criteria provided, single submitter clinical testing
Invitae RCV000551650 SCV000641773 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-03-15 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 54 (p.Lys54*) of the MUT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MUT are known to be pathogenic. This particular variant has been reported in homozygosis in two independent individuals affected with methylmalonic acidemia (PMID: 10923046, 22727635). For these reasons, this variant has been classified as Pathogenic.

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