Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389572 | SCV001590967 | pathogenic | Mucopolysaccharidosis, MPS-III-D | 2020-08-30 | criteria provided, single submitter | clinical testing | Loss-of-function variants in GNS are known to be pathogenic (PMID: 20232353). This sequence change creates a premature translational stop signal (p.Leu213Trpfs*15) in the GNS gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GNS-related conditions. For these reasons, this variant has been classified as Pathogenic. |