Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001214686 | SCV001386381 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-08-02 | 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: 944314). This variant has not been reported in the literature in individuals affected with RPGRIP1L-related conditions. This variant is present in population databases (rs771129715, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ala823Valfs*23) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). |