ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1169G>A (p.Arg390His)

dbSNP: rs199476201
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001358595 SCV002237194 pathogenic not provided 2023-08-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 390 of the CYP4V2 protein (p.Arg390His). This variant is present in population databases (rs199476201, gnomAD 0.01%). This missense change has been observed in individual(s) with Bietti crystalline corneoretinal dystrophy (PMID: 21565171, 33090715). ClinVar contains an entry for this variant (Variation ID: 39251). 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. This variant disrupts the p.Arg390 amino acid residue in CYP4V2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22087103, 26971461, 28051075). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000032528 SCV000056191 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001358595 SCV001554381 uncertain significance not provided no assertion criteria provided clinical testing

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