Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066937 | SCV001231961 | pathogenic | not provided | 2022-08-22 | criteria provided, single submitter | clinical testing | This variant, c.5970_5990del, results in the deletion of 7 amino acid(s) of the ABCA4 protein (p.Thr1992_Val1998del), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the ABCA4 protein in which other variant(s) (p.Gly1994Glu) have been determined to be pathogenic (PMID: 32619608; 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. ClinVar contains an entry for this variant (Variation ID: 860601). This variant has been observed in individual(s) with clinical features of Stargardt disease (Invitae). This variant is not present in population databases (gnomAD no frequency). |