Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001865638 | SCV002239475 | pathogenic | not provided | 2023-03-24 | 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) 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: 438149). This missense change has been observed in individual(s) with CYP4V2-related conditions (PMID: 24480711, 28041643). This variant is present in population databases (rs745413794, gnomAD 0.03%). This sequence change replaces methionine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 66 of the CYP4V2 protein (p.Met66Arg). |
NIHR Bioresource Rare Diseases, |
RCV000504812 | SCV000599070 | likely pathogenic | Retinitis pigmentosa | 2015-01-01 | no assertion criteria provided | research |