Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380085 | SCV001578030 | pathogenic | Methylmalonic aciduria, cblB type | 2022-12-23 | 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: 1068489). This premature translational stop signal has been observed in individual(s) with methylmalonic aciduria due to cobalamin B deficiency (PMID: 30041674). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu74*) in the MMAB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MMAB are known to be pathogenic (PMID: 15781192, 16410054). |
Baumgartner lab, |
RCV001380085 | SCV001738455 | pathogenic | Methylmalonic aciduria, cblB type | 2021-06-01 | no assertion criteria provided | clinical testing |