ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter)

gnomAD frequency: 0.00003  dbSNP: rs879253826
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000236434 SCV000262781 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
Invitae RCV001376599 SCV001232830 pathogenic not provided 2023-07-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr110*) 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria (PMID: 27167370). ClinVar contains an entry for this variant (Variation ID: 222909). For these reasons, this variant has been classified as Pathogenic.

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