Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213685 | SCV001385330 | uncertain significance | not provided | 2022-09-12 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 825 of the ABCA4 protein (p.Gly825Arg). This variant is present in population databases (rs368367104, gnomAD 0.02%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 33090715, 33301772, 33732702). ClinVar contains an entry for this variant (Variation ID: 943489). 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 not expected to disrupt ABCA4 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Ocular Genomics Institute, |
RCV001376391 | SCV001573512 | uncertain significance | Severe early-childhood-onset retinal dystrophy | 2021-04-08 | criteria provided, single submitter | research | The ABCA4 c.2473G>A variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, BP4. Based on this evidence we have classified this variant as Variant of Uncertain Significance. |