Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002531373 | SCV002929638 | pathogenic | Beta-D-mannosidosis | 2024-01-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser244*) in the MANBA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MANBA are known to be pathogenic (PMID: 9384606, 12468273). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MANBA-related conditions. ClinVar contains an entry for this variant (Variation ID: 558951). For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV000675792 | SCV000801513 | likely pathogenic | not provided | 2017-06-07 | no assertion criteria provided | clinical testing |