Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000085591 | SCV000321349 | pathogenic | not provided | 2016-08-18 | criteria provided, single submitter | clinical testing | The E1252X nonsense variant in the ABCA4 gene has been reported previously in association with Stargardt disease (Rozet et al., 1998; Burke et al., 2014). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. E1252X was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we consider this variant to be pathogenic. |
Blueprint Genetics | RCV001074194 | SCV001239764 | pathogenic | Retinal dystrophy | 2019-03-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085591 | SCV001401323 | pathogenic | not provided | 2022-10-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99238). This premature translational stop signal has been observed in individual(s) with Stargardt disease (Invitae). This variant is present in population databases (rs61752423, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Glu1252*) in the ABCA4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCA4 are known to be pathogenic (PMID: 10958761, 24938718, 25312043, 26780318). |
Retina International | RCV000085591 | SCV000117729 | not provided | not provided | no assertion provided | not provided |