Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001224166 | SCV001396349 | pathogenic | Deficiency of alpha-mannosidase | 2021-03-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ala300Glyfs*24) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MAN2B1-related conditions. ClinVar contains an entry for this variant (Variation ID: 952119). For these reasons, this variant has been classified as Pathogenic. |
Genome- |
RCV001224166 | SCV002014487 | pathogenic | Deficiency of alpha-mannosidase | 2021-09-05 | criteria provided, single submitter | clinical testing |