Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000085864 | SCV001222927 | pathogenic | not provided | 2023-09-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 99503). This missense change has been observed in individual(s) with clinical features of ABCA4-related conditions (PMID: 9973280, 28559085, 32531858; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 249 of the ABCA4 protein (p.Asp249Gly). |
Ce |
RCV000085864 | SCV001502527 | uncertain significance | not provided | 2020-07-01 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085864 | SCV000118007 | not provided | not provided | no assertion provided | not provided |