Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001387352 | SCV001587962 | pathogenic | Deficiency of alpha-mannosidase | 2020-04-13 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in MAN2B1 are known to be pathogenic (PMID: 9915946, 22161967). This variant has been observed in individual(s) with alpha-mannosidosis (PMID: 22161967). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr163Serfs*25) in the MAN2B1 gene. It is expected to result in an absent or disrupted protein product. |