Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000986370 | SCV001135358 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Institute of Medical Molecular Genetics, |
RCV000986370 | SCV001548066 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001858641 | SCV002120864 | pathogenic | not provided | 2024-01-02 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 616 of the ABCA4 protein (p.Glu616Lys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Stargardt disease (PMID: 19265867, 32307445). ClinVar contains an entry for this variant (Variation ID: 801518). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
Sharon lab, |
RCV001002841 | SCV001160862 | likely pathogenic | Stargardt disease | 2019-06-23 | no assertion criteria provided | research |