Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074077 | SCV001239646 | uncertain significance | Retinal dystrophy | 2018-12-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002557904 | SCV003523337 | pathogenic | not provided | 2023-10-07 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 345 of the ABCA4 protein (p.Tyr345Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with Stargardt disease (PMID: 28446513, 29925512, 33301772). ClinVar contains an entry for this variant (Variation ID: 866242). 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. |