ClinVar Miner

Submissions for variant NM_000255.4(MMUT):c.109C>T (p.Gln37Ter)

gnomAD frequency: 0.00001  dbSNP: rs1487859107
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001091105 SCV001246960 pathogenic not provided 2018-12-01 criteria provided, single submitter clinical testing
Invitae RCV001091105 SCV002242754 pathogenic not provided 2022-06-27 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: 871258). This premature translational stop signal has been observed in individuals with methylmalonic aciduria (PMID: 26615597). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln37*) 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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