Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000552652 | SCV000641765 | pathogenic | Methylmalonic aciduria, cblA type | 2024-01-03 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg359*) in the MMAA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 60 amino acid(s) of the MMAA protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria (PMID: 23026888; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 466216). This variant disrupts the C-terminus of the MMAA protein. Other variant(s) that disrupt this region (p.Gln362*, p.Lys364Serfs*51) have been observed in individuals with MMAA-related conditions (PMID: 15523652, 23026888). This suggests that this may be a clinically significant region of the protein. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000552652 | SCV002017503 | pathogenic | Methylmalonic aciduria, cblA type | 2021-06-19 | criteria provided, single submitter | clinical testing | |
Kasturba Medical College, |
RCV000552652 | SCV002562209 | pathogenic | Methylmalonic aciduria, cblA type | criteria provided, single submitter | clinical testing | ||
Baylor Genetics | RCV000552652 | SCV004193087 | pathogenic | Methylmalonic aciduria, cblA type | 2023-10-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000552652 | SCV000796871 | pathogenic | Methylmalonic aciduria, cblA type | 2018-01-03 | no assertion criteria provided | clinical testing | |
Natera, |
RCV000552652 | SCV001452014 | pathogenic | Methylmalonic aciduria, cblA type | 2020-09-16 | no assertion criteria provided | clinical testing |