Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228427 | SCV001400827 | pathogenic | not provided | 2023-09-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the USH2A protein in which other variant(s) (p.Gly603Arg ) have been determined to be pathogenic (PMID: 28559085, 28944237). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 955739). This variant has been observed in individuals with Usher syndrome and retinitis pigmentosa (PMID: 25333064; Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.1808_1810del, results in the deletion of 1 amino acid(s) of the USH2A protein (p.Gly603del), but otherwise preserves the integrity of the reading frame. |