Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000078663 | SCV000110522 | uncertain significance | not provided | 2013-08-14 | criteria provided, single submitter | clinical testing | |
Blueprint Genetics | RCV001074049 | SCV001239617 | uncertain significance | Retinal dystrophy | 2018-11-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000078663 | SCV001539244 | uncertain significance | not provided | 2023-06-15 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with tryptophan, which is neutral and slightly polar, at codon 928 of the ABCA4 protein (p.Gly928Trp). 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. 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: 92865). This missense change has been observed in individual(s) with Stargardt disease (PMID: 20647261). This variant is not present in population databases (gnomAD no frequency). |