ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)

dbSNP: rs879253828
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV001264283 SCV001442386 likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-03-30 criteria provided, single submitter clinical testing
Invitae RCV003660880 SCV004382174 pathogenic not provided 2023-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 984273). This variant has not been reported in the literature in individuals affected with MUT-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly133*) in 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 (PMID: 15781192).

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