Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408484 | SCV000281955 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085806 | SCV000490384 | pathogenic | not provided | 2021-11-19 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 11379881, 9054934, 23143460, 25066811, 28044389, 28355279, 25283059, 30903310, 34426522, 31589614, 29114839, 32619608) |
Blueprint Genetics | RCV001075529 | SCV001241155 | pathogenic | Retinal dystrophy | 2018-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085806 | SCV001408471 | pathogenic | not provided | 2024-01-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 2106 of the ABCA4 protein (p.Arg2106Cys). This variant is present in population databases (rs61750648, gnomAD 0.08%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 11379881, 23143460, 25283059, 28355279). 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: 99447). 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). This variant disrupts the p.Arg2106 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been observed in individuals with ABCA4-related conditions (PMID: 26161775, 28327576), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000085806 | SCV002018114 | pathogenic | not provided | 2019-10-31 | criteria provided, single submitter | clinical testing | |
MGZ Medical Genetics Center | RCV000408484 | SCV002580593 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-12-20 | criteria provided, single submitter | clinical testing | |
Dept Of Ophthalmology, |
RCV001075529 | SCV004705696 | likely pathogenic | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Retina International | RCV000085806 | SCV000117949 | not provided | not provided | no assertion provided | not provided |