Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001052695 | SCV001216919 | pathogenic | Deficiency of alpha-mannosidase | 2019-01-28 | criteria provided, single submitter | clinical testing | This variant has been observed in an individual affected with mannosidosis (PMID: 22161967) This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Val672*) 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). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV001052695 | SCV004191917 | pathogenic | Deficiency of alpha-mannosidase | 2022-09-23 | criteria provided, single submitter | clinical testing |