Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000996527 | SCV001151277 | likely pathogenic | not provided | 2020-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000996527 | SCV001589296 | pathogenic | not provided | 2022-09-20 | 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: 808255). This variant has not been reported in the literature in individuals affected with GPR179-related conditions. This variant is present in population databases (rs773022324, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Arg525*) 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). |