ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1168C>T (p.Arg390Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001388599 SCV001589655 pathogenic not provided 2020-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 390 of the CYP4V2 protein (p.Arg390Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs776616377, ExAC 0.01%). This variant has been observed in individual(s) with Bietti crystalline dystrophy (PMID: 22087103, 26971461, 28051075). It has also been observed to segregate with disease in related individuals. 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. For these reasons, this variant has been classified as Pathogenic.

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