ClinVar Miner

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

dbSNP: rs1554161054
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001376569 SCV000641773 pathogenic not provided 2020-08-25 criteria provided, single submitter clinical testing This variant has been observed to be homozygous in several individuals affected with affected with methylmalonic acidemia (PMID: 10923046, 22727635). ClinVar contains an entry for this variant (Variation ID: 466219). This sequence change creates a premature translational stop signal (p.Lys54*) 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). Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic.
Genome-Nilou Lab RCV000551650 SCV001810509 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2021-07-22 criteria provided, single submitter clinical testing
Counsyl RCV000551650 SCV000793657 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2017-08-22 no assertion criteria provided clinical testing

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