Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652844 | SCV000774716 | pathogenic | Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 | 2017-09-24 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in HGSNAT are known to be pathogenic (PMID: 17033958, 19479962, 25859010). This variant has not been reported in the literature in individuals with HGSNAT-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser296*) in the HGSNAT gene. It is expected to result in an absent or disrupted protein product. |