Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001074574 | SCV001240165 | pathogenic | Retinal dystrophy | 2018-12-31 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV001268174 | SCV001446896 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001268174 | SCV001590588 | pathogenic | not provided | 2023-08-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 866516). This missense change has been observed in individual(s) with Stargardt disease (PMID: 17893657, 23419329, 29854428, 29925512). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs781716640, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 290 of the ABCA4 protein (p.Arg290Trp). |
Laboratory of Medical Genetics, |
RCV001729794 | SCV001976707 | pathogenic | Severe early-childhood-onset retinal dystrophy | 2021-10-01 | criteria provided, single submitter | clinical testing | PM1, PM3, PM5, PP2, PP3, PP5 |
Revvity Omics, |
RCV001268174 | SCV003824319 | uncertain significance | not provided | 2020-03-27 | criteria provided, single submitter | clinical testing |