Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003079173 | SCV003461876 | pathogenic | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2022-08-23 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln408Alafs*13) in the RPGRIP1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in RPGRIP1 are known to be pathogenic (PMID: 11528500, 23105016). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with RPGRIP1-related conditions (PMID: 28157192). For these reasons, this variant has been classified as Pathogenic. |