Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001047127 | SCV001211063 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2021-05-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in RPGRIP1L are known to be pathogenic (PMID: 17558409). This variant has not been reported in the literature in individuals with RPGRIP1L-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Phe822Leufs*27) in the RPGRIP1L gene. It is expected to result in an absent or disrupted protein product. |