Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Blueprint Genetics | RCV001075476 | SCV001241099 | uncertain significance | Retinal dystrophy | 2018-10-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001862615 | SCV002164226 | uncertain significance | not provided | 2023-12-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 1942 of the ABCA4 protein (p.Glu1942Gln). This variant is present in population databases (rs760353830, gnomAD 0.02%). This missense change has been observed in individual(s) with Stargardt disease (PMID: 23419329). ClinVar contains an entry for this variant (Variation ID: 867010). 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. 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. |
Ophthalmo- |
RCV004564578 | SCV005049257 | uncertain significance | Severe early-childhood-onset retinal dystrophy | no assertion criteria provided | research |