Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001031526 | SCV001194832 | likely pathogenic | not provided | 2019-03-27 | criteria provided, single submitter | clinical testing | This variant is an in-frame deletion of the genomic region encompassing exon 50 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. This variant disrupts the p.Cys3267 amino acid residue in USH2A. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 17085681, 25404053,30190494, 27596865). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |