Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001382482 | SCV001581257 | pathogenic | not provided | 2023-02-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu2151*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1070368). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003462984 | SCV004208248 | likely pathogenic | Retinitis pigmentosa 39 | 2023-09-19 | criteria provided, single submitter | clinical testing |