Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000085792 | SCV002240645 | pathogenic | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2060 of the ABCA4 protein (p.Leu2060Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with cone-rod dystrophy, retinitis pigmentosa and Stargardt Disease (PMID: 11385708, 23755871, 27596865). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 99433). 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. For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV002490744 | SCV002800021 | pathogenic | Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 | 2021-07-27 | criteria provided, single submitter | clinical testing | |
| Retina International | RCV000085792 | SCV000117935 | not provided | not provided | no assertion provided | not provided |