Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001032869 | SCV001196176 | pathogenic | not provided | 2019-04-29 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exon 22 of the USH2A gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. A similar deletion of exon 22 has been reported in an individual affected with Usher syndrome type 2 (PMID: 25558175). 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. |