Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001388542 | SCV001589545 | pathogenic | not provided | 2020-10-07 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). This nonsense change has been observed in individual(s) with Usher syndrome (PMID: 25333064). This sequence change creates a premature translational stop signal (p.Trp3702*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. |