ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)

dbSNP: rs1223169999
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309162 SCV002602971 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-03-27 criteria provided, single submitter clinical testing NM_000255.3(MMUT):c.511A>T(K171*) is expected to be pathogenic in the context of methylmalonic acidemia, MMUT-related. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in MMUT, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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