Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000085874 | SCV000321334 | likely pathogenic | not provided | 2023-10-17 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 25066811, 11527935, 19074458, 28041643, 32581362) |
Blueprint Genetics | RCV001075838 | SCV001241477 | likely pathogenic | Retinal dystrophy | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085874 | SCV001382437 | pathogenic | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with arginine, which is basic and polar, at codon 309 of the ABCA4 protein (p.Pro309Arg). This variant is present in population databases (rs61748545, gnomAD 0.2%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 25066811; Invitae). ClinVar contains an entry for this variant (Variation ID: 99513). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on ABCA4 protein function. For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000085874 | SCV000118017 | not provided | not provided | no assertion provided | not provided | ||
NIHR Bioresource Rare Diseases, |
RCV000504769 | SCV000599027 | likely pathogenic | Macular dystrophy | 2015-01-01 | no assertion criteria provided | research |