Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000659009 | SCV000780812 | likely pathogenic | not provided | 2017-11-01 | criteria provided, single submitter | clinical testing | |
Institute of Medical Genetics and Applied Genomics, |
RCV000659009 | SCV001447933 | likely pathogenic | not provided | 2020-10-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000659009 | SCV002126946 | pathogenic | not provided | 2022-11-01 | 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 CYP4V2 protein function. ClinVar contains an entry for this variant (Variation ID: 39254). This missense change has been observed in individual(s) with Bietti crystalline dystrophy and autosomal recessive retinitis pigmentosa (PMID: 16179904, 24480711, 28051075, 31960602). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs199476203, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 400 of the CYP4V2 protein (p.Arg400His). |
Gene |
RCV000032531 | SCV000056194 | pathologic | Bietti crystalline corneoretinal dystrophy | 2012-04-12 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |