Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000203366 | SCV003525711 | pathogenic | Methylmalonic aciduria, cblA type | 2023-08-08 | 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: 218972). This sequence change creates a premature translational stop signal (p.Gln120*) 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: 15781192, 20549364). |
Baylor Genetics | RCV000203366 | SCV004193112 | pathogenic | Methylmalonic aciduria, cblA type | 2023-04-10 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000203366 | SCV000258473 | not provided | Methylmalonic aciduria, cblA type | no assertion provided | literature only |