ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter) (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 RCV000236434 SCV001232830 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2019-02-04 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. This variant is not present in population databases (ExAC no frequency). This variant has been observed in combination with another MUT variant in an individual affected with methylmalonic aciduria (PMID: 27167370). ClinVar contains an entry for this variant (Variation ID: 222909). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in MUT are known to be pathogenic (PMID: 15781192). For these reasons, this variant has been classified as Pathogenic.

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