Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074423 | SCV001240006 | likely pathogenic | Retinal dystrophy | 2019-08-16 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085534 | SCV001400656 | pathogenic | not provided | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 100 of the ABCA4 protein (p.Ser100Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of ABCA4-related conditions (PMID: 11328725, 19074458; Invitae). ClinVar contains an entry for this variant (Variation ID: 99185). 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 with a positive predictive value of 95%. Experimental studies have shown that this missense change affects ABCA4 function (PMID: 24097981). For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000085534 | SCV000117671 | not provided | not provided | no assertion provided | not provided |