Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000085567 | SCV003523391 | pathogenic | not provided | 2022-04-17 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with Stargardt disease (PMID: 11702214; Invitae). ClinVar contains an entry for this variant (Variation ID: 99216). 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 1099 of the ABCA4 protein (p.Ser1099Pro). |
Retina International | RCV000085567 | SCV000117704 | not provided | not provided | no assertion provided | not provided |