Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000085881 | SCV001494064 | uncertain significance | not provided | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 333 of the ABCA4 protein (p.Arg333Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs61748546, ExAC 0.01%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 11328725). ClinVar contains an entry for this variant (Variation ID: 99520). 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. 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. |
| Retina International | RCV000085881 | SCV000118024 | not provided | not provided | no assertion provided | not provided |