ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1198C>T (p.Arg400Cys)

gnomAD frequency: 0.00010  dbSNP: rs138444697
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000368904 SCV000342751 uncertain significance not provided 2016-06-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000368904 SCV001250476 pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing
Institute of Medical Molecular Genetics, University of Zurich 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).
GeneReviews RCV000032530 SCV000056193 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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