Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000761283 | SCV000891243 | likely pathogenic | Congenital stationary night blindness 1E | 2017-07-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869039 | SCV002227835 | pathogenic | not provided | 2021-07-31 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 623175). This variant has not been reported in the literature in individuals affected with GPR179-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr576Serfs*50) in the GPR179 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GPR179 are known to be pathogenic (PMID: 22325361, 22325362). |