Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668717 | SCV000793362 | likely pathogenic | Methylmalonic aciduria, cblB type | 2017-08-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668717 | SCV001582119 | pathogenic | Methylmalonic aciduria, cblB type | 2023-02-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the MMAB protein in which other variant(s) (p.Gln234*) have been determined to be pathogenic (PMID: 16410054, 21604717). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This sequence change creates a premature translational stop signal (p.Phe221Hisfs*21) in the MMAB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 30 amino acid(s) of the MMAB protein. This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with MMAB-related conditions. ClinVar contains an entry for this variant (Variation ID: 553302). |