Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001309405 | SCV001498901 | pathogenic | not provided | 2023-07-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant, c.1387_1416del, results in the deletion of 10 amino acid(s) of the USH2A protein (p.Tyr463_Asn472del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with retinitis pigmentosa (Invitae). ClinVar contains an entry for this variant (Variation ID: 1011581). This variant disrupts a region of the USH2A protein in which other variant(s) (p.Gly466Val) have been determined to be pathogenic (PMID: 24938718, 31960602; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. |