Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001380219 | SCV001578199 | pathogenic | not provided | 2020-10-09 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 45-49 of the USH2A gene. It preserves the integrity of the reading frame. This variant has not been reported in the literature in individuals with USH2A-related conditions. The region of the USH2A gene that includes exons 45-49 has been determined to be clinically significant (PMID: 30190494, 30459346, Invitae). Therefore, deletions that encompass that region are likely to disrupt protein function and cause disease. For these reasons, this variant has been classified as Pathogenic. |