Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001035476 | SCV001198804 | pathogenic | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1794 of the ABCA4 protein (p.Ala1794Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Stargardt disease (PMID: 29847635; Invitae). ClinVar contains an entry for this variant (Variation ID: 812197). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCA4 protein function. Experimental studies have shown that this missense change affects ABCA4 function (PMID: 29847635). This variant disrupts the p.Ala1794 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 10090887, 30093795). 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. |
Ce |
RCV001035476 | SCV001747457 | pathogenic | not provided | 2021-02-01 | criteria provided, single submitter | clinical testing | |
Sharon lab, |
RCV001002814 | SCV001160828 | pathogenic | Stargardt disease | 2019-06-23 | no assertion criteria provided | research |