Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001091947 | SCV001248249 | pathogenic | not provided | 2018-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001091947 | SCV001562813 | pathogenic | not provided | 2023-08-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with clinical features of Stargardt Disease (PMID: 23419329, 28446513, 28947085; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This variant, c.4249_4251del, results in the deletion of 1 amino acid(s) of the ABCA4 protein (p.Phe1417del), but otherwise preserves the integrity of the reading frame. |