Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039283 | SCV001202807 | likely pathogenic | not provided | 2023-06-09 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 837854). This missense change has been observed in individual(s) with retinitis pigmentosa and/or Stargardt disease (PMID: 25097154; Invitae). This variant is present in population databases (rs147807073, gnomAD 0.007%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 207 of the ABCA4 protein (p.Glu207Lys). 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |