Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001032329 | SCV001195636 | likely pathogenic | not provided | 2021-08-12 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 48-49 of the ABCA4 gene. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to disrupt the C-terminus of the protein. A similar copy number variant has been observed in individual(s) with Stargardt disease (Invitae). This variant disrupts the C-terminus of the ABCA4 protein. Other variant(s) that disrupt this region (c.6816+1G>T, c.6816+1G>A, deletion of exon 50) have been observed in individuals with ABCA4-related conditions (PMID: 26161775, 30060493, 30718709). This suggests that this may be a clinically significant region of the protein. 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. |