Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
UW Hindbrain Malformation Research Program, |
RCV000201745 | SCV000256465 | pathogenic | Joubert syndrome 7 | 2015-02-23 | criteria provided, single submitter | research | |
Invitae | RCV003765304 | SCV004570982 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-10-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp378Glyfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 26092869). ClinVar contains an entry for this variant (Variation ID: 217692). For these reasons, this variant has been classified as Pathogenic. |