ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1181dup (p.Leu394fs)

dbSNP: rs879253841
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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 RCV000236977 SCV000262802 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
Invitae RCV002515556 SCV003439436 pathogenic not provided 2023-08-10 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: 222930). This premature translational stop signal has been observed in individual(s) with methylmalonic acidemia (PMID: 26270765). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu394Phefs*30) 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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