Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001073651 | SCV001239202 | pathogenic | Retinal dystrophy | 2019-08-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001386482 | SCV001586719 | pathogenic | not provided | 2021-07-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Usher syndrome (PMID: 24944099). ClinVar contains an entry for this variant (Variation ID: 865988). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser2490Leufs*4) 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). |