Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001238785 | SCV001411614 | uncertain significance | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 44 of the CYP4V2 protein (p.Trp44Arg). This variant is present in population databases (rs119103282, gnomAD 0.08%). This missense change has been observed in individual(s) with Bietti crystalline corneoretinal dystrophy (PMID: 15042513, 28051075). ClinVar contains an entry for this variant (Variation ID: 2187). 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 CYP4V2 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. |
OMIM | RCV000002271 | SCV000022429 | pathogenic | Bietti crystalline corneoretinal dystrophy | 2004-05-01 | no assertion criteria provided | literature only | |
Gene |
RCV000002271 | SCV000056196 | pathologic | Bietti crystalline corneoretinal dystrophy | 2012-04-12 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |