ClinVar Miner

Submissions for variant NM_172250.3(MMAA):c.651dup (p.Gly218fs)

gnomAD frequency: 0.00001  dbSNP: rs1314623572
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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 RCV000509038 SCV000606791 pathogenic Methylmalonic aciduria, cblA type criteria provided, single submitter clinical testing
Invitae RCV000509038 SCV002239036 pathogenic Methylmalonic aciduria, cblA type 2023-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly218Argfs*9) in the MMAA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMAA are known to be pathogenic (PMID: 15523652, 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 cobalamin A type (PMID: 28497574). ClinVar contains an entry for this variant (Variation ID: 440804). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV002512108 SCV002821274 pathogenic not provided 2023-02-01 criteria provided, single submitter clinical testing

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