Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Blueprint Genetics | RCV001074757 | SCV001240352 | likely pathogenic | Retinal dystrophy | 2019-05-27 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000085589 | SCV004292507 | uncertain significance | not provided | 2023-08-04 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1235 of the ABCA4 protein (p.Asn1235Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ABCA4-related conditions (PMID: 29925512, 32531858). ClinVar contains an entry for this variant (Variation ID: 99236). |
| Institute of Human Genetics, |
RCV001074757 | SCV005069147 | likely pathogenic | Retinal dystrophy | 2018-01-01 | criteria provided, single submitter | clinical testing | |
| Retina International | RCV000085589 | SCV000117727 | not provided | not provided | no assertion provided | not provided |