ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)

dbSNP: rs879253848
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University Children's Hospital, University of Zurich RCV000235505 SCV000262811 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000235505 SCV002792389 pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency 2022-01-17 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515557 SCV003439354 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln659*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria (PMID: 27167370, 27233228). ClinVar contains an entry for this variant (Variation ID: 222939). For these reasons, this variant has been classified as Pathogenic.

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