Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
University Children's Hospital, |
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. |
Ce |
RCV002512108 | SCV002821274 | pathogenic | not provided | 2023-02-01 | criteria provided, single submitter | clinical testing |