Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075012 | SCV001240622 | likely pathogenic | Retinal dystrophy | 2018-02-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085726 | SCV004292491 | pathogenic | not provided | 2023-10-13 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1799 of the ABCA4 protein (p.Asn1799Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Stargardt disease (PMID: 29925512, 32619608). ClinVar contains an entry for this variant (Variation ID: 99372). 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. For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000085726 | SCV000117866 | not provided | not provided | no assertion provided | not provided |