Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000702068 | SCV000830902 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2017-10-27 | criteria provided, single submitter | clinical testing | Loss-of-function variants in B3GALNT2 are known to be pathogenic (PMID: 23453667). This variant has not been reported in the literature in individuals with B3GALNT2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg150*) in the B3GALNT2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000702068 | SCV002520457 | pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 | 2022-04-21 | no assertion criteria provided | literature only |