Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Institute of Human Genetics, |
RCV000408473 | SCV000281909 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
| Institute of Human Genetics, |
RCV004816416 | SCV005072075 | likely pathogenic | Retinal dystrophy | 2011-01-01 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV005090154 | SCV005833976 | pathogenic | not provided | 2024-12-05 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1660 of the ABCA4 protein (p.Pro1660Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Stargardt Disease (PMID: 28118664, 32307445). ClinVar contains an entry for this variant (Variation ID: 236123). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt ABCA4 protein function with a positive predictive value of 95%. This variant disrupts the p.Pro1660 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22247458; internal data). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Sharon lab, |
RCV001002822 | SCV001160837 | pathogenic | Stargardt disease | 2019-06-23 | no assertion criteria provided | research |