Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075208 | SCV001240822 | uncertain significance | Retinal dystrophy | 2018-11-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002554748 | SCV003496257 | pathogenic | not provided | 2023-05-12 | 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.Cys3267Arg) have been determined to be pathogenic (PMID: 17085681, 22004887, 25404053, 30190494). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 866859). This variant is also known as c.9787_9807delATTGGTGATTCCTGCTGTGGC. This variant has been observed in individual(s) with Usher syndrome (PMID: 20507924). This variant is present in population databases (no rsID available, gnomAD 0.003%). This variant, c.9788_9808del, results in the deletion of 7 amino acid(s) of the USH2A protein (p.Ile3263_Gly3269del), but otherwise preserves the integrity of the reading frame. |