Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069986 | SCV001235192 | pathogenic | not provided | 2023-08-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp1693*) 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 premature translational stop signal has been observed in individual(s) with Usher syndrome (PMID: 30948794). ClinVar contains an entry for this variant (Variation ID: 863100). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003469261 | SCV004208223 | pathogenic | Retinitis pigmentosa 39 | 2023-10-02 | criteria provided, single submitter | clinical testing |