Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute of Human Genetics, |
RCV000408531 | SCV000281959 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2016-01-01 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000085823 | SCV000706612 | pathogenic | not provided | 2017-03-29 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085823 | SCV001227419 | pathogenic | not provided | 2023-11-19 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 2150 of the ABCA4 protein (p.Cys2150Tyr). This variant is present in population databases (rs61751384, gnomAD 0.006%). This missense change has been observed in individual(s) with bullseye maculopathy (PMID: 15579991, 23755871, 24743636, 25283059, 28559085). 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: 99463). 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%. This variant disrupts the p.Cys2150 amino acid residue in ABCA4. Other variant(s) that disrupt this residue have been observed in individuals with ABCA4-related conditions (PMID: 11527935), which suggests that this may be a clinically significant amino acid residue. For these reasons, this variant has been classified as Pathogenic. |
Blueprint Genetics | RCV001074378 | SCV001239956 | pathogenic | Retinal dystrophy | 2019-07-30 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000085823 | SCV001247595 | pathogenic | not provided | 2019-07-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000085823 | SCV001446805 | pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085823 | SCV001827128 | pathogenic | not provided | 2020-11-17 | 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: 32467599, 32581362, 28559085, 18977788, 29925512, 27820952, 19074458, 10206579, 25283059, 25342616, 11527935, 11673412, 14971589, 16917483, 10634594, 24677105, 26743751, 25139735, 23096905, 19243736, 15579991, 28118664, 24743636, 22264887, 25301883, 18024811, 15192030, 11702214, 11328725, 14517951) |
Retina International | RCV000085823 | SCV000117966 | not provided | not provided | no assertion provided | not provided | ||
NIHR Bioresource Rare Diseases, |
RCV000408531 | SCV000599018 | likely pathogenic | Severe early-childhood-onset retinal dystrophy | 2015-01-01 | no assertion criteria provided | research |