Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003769397 | SCV004597250 | pathogenic | Cone-rod dystrophy 13; Leber congenital amaurosis 6 | 2023-06-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the RPGRIP1 protein in which other variant(s) (Deletion (Exon 24)) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 812428). This variant is also known as c.3663_6del4, p.K1221Nfs‚àó22. This premature translational stop signal has been observed in individual(s) with RPGRIP1-related conditions (PMID: 34722527). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys1221Asnfs*23) in the RPGRIP1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 66 amino acid(s) of the RPGRIP1 protein. |
Sharon lab, |
RCV001003212 | SCV001161290 | pathogenic | Retinitis pigmentosa | 2019-06-23 | no assertion criteria provided | research |