Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000990237 | SCV001141114 | pathogenic | Leber congenital amaurosis 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001233804 | SCV001406416 | pathogenic | Leber congenital amaurosis 7; Cone-rod dystrophy 2 | 2021-12-08 | 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: 803571). This premature translational stop signal has been observed in individuals with autosomal dominant CRX-related conditions (PMID: 29641573, 31626798, 31630094, 32865313). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser167*) in the CRX gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 133 amino acid(s) of the CRX protein. |