Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408578 | SCV000281868 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000763045 | SCV000893526 | pathogenic | Cone-rod dystrophy 3; Age related macular degeneration 2; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa 19 | 2022-02-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085576 | SCV001233046 | pathogenic | not provided | 2024-01-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1129 of the ABCA4 protein (p.Arg1129Leu). This variant is present in population databases (rs1801269, gnomAD 0.2%). This missense change has been observed in individual(s) with Stargardt disease or cone-rod dystrophy (PMID: 19074458, 23755871, 27032803, 29114839). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99224). 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: 11017087). For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001075726 | SCV001241354 | pathogenic | Retinal dystrophy | 2019-05-09 | criteria provided, single submitter | clinical testing | |
Centre for Mendelian Genomics, |
RCV001199211 | SCV001370233 | pathogenic | Age related macular degeneration 2 | 2019-02-27 | criteria provided, single submitter | clinical testing | This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM5,PP2,PP3,PP5. |
Gene |
RCV000085576 | SCV001813911 | pathogenic | not provided | 2022-11-04 | criteria provided, single submitter | clinical testing | Reported as a common pathogenic variant among individuals of Spanish background (Riveiro-Alvarez et al., 2013); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28771251, 29114839, 27032803, 30337596, 30093795, 32483926, 32845050, 32036094, 25698705, 17277736, 9295268, 29555955, 28118664, 19074458, 16917483, 30156925, 32141364, 32619608, 31589614, 34327195, 34426522, 33090715, 33302505, 11017087, 23755871, 29925512) |
Mendelics | RCV001199211 | SCV002517485 | pathogenic | Age related macular degeneration 2 | 2022-05-04 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000085576 | SCV003812962 | pathogenic | not provided | 2022-04-26 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085576 | SCV000117714 | not provided | not provided | no assertion provided | not provided |