Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000368904 | SCV000342751 | uncertain significance | not provided | 2016-06-21 | criteria provided, single submitter | clinical testing | |
Ce |
RCV000368904 | SCV001250476 | pathogenic | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Molecular Genetics, |
RCV000032530 | SCV001548112 | likely pathogenic | Bietti crystalline corneoretinal dystrophy | 2021-01-30 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000368904 | SCV002237139 | pathogenic | not provided | 2023-05-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg400 amino acid residue in CYP4V2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 16179904, 24480711, 28051075, 31960602). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 39253). This missense change has been observed in individual(s) with Bietti crystalline dystrophy (PMID: 17962476, 28698241, 31512983; Invitae). This variant is present in population databases (rs138444697, gnomAD 0.01%), including at least one homozygous and/or hemizygous individual. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 400 of the CYP4V2 protein (p.Arg400Cys). |
Gene |
RCV000032530 | SCV000056193 | pathologic | Bietti crystalline corneoretinal dystrophy | 2012-04-12 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |