ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1393A>G (p.Arg465Gly) (rs144109267)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000153133 SCV000202593 pathogenic not provided 2014-04-11 criteria provided, single submitter clinical testing
Invitae RCV000153133 SCV001586233 pathogenic not provided 2020-07-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 465 of the CYP4V2 protein (p.Arg465Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs144109267, ExAC 0.006%). This variant has been observed in individual(s) with Bietti crystalline dystrophy (PMID: 23221965, 29691984, 25629076, 28051075, 24480711). ClinVar contains an entry for this variant (Variation ID: 166978). 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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