Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003764506 | SCV004570983 | pathogenic | Familial aplasia of the vermis; Meckel-Gruber syndrome | 2023-01-28 | 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: 1073). This premature translational stop signal has been observed in individual(s) with RPGRIP1L-related conditions (PMID: 17558409). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln345*) 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). |
OMIM | RCV000001128 | SCV000021278 | pathogenic | Meckel syndrome, type 5 | 2007-07-01 | no assertion criteria provided | literature only |