Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389358 | SCV001590684 | pathogenic | not provided | 2020-08-29 | criteria provided, single submitter | clinical testing | Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with Usher syndrome (PMID: 28894305). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr2815Tyrfs*20) in the USH2A gene. It is expected to result in an absent or disrupted protein product. |