Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001390581 | SCV001592358 | pathogenic | not provided | 2020-10-20 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon(s) 38-56 of the USH2A gene. It preserves the integrity of the reading frame. A similar deletion has been observed in an individual affected with Usher syndrome (PMID: 26927203). The region of the USH2A gene that includes exon(s) 50-55 has been determined to be clinically significant (PMID: 22135276, 30190494, 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. |