ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.242C>G (p.Thr81Arg)

dbSNP: rs2126582057
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002025957 SCV002292178 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with Bietti crystalline dystrophy (PMID: 25629076). This sequence change replaces threonine with arginine at codon 81 of the CYP4V2 protein (p.Thr81Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine. This variant is not present in population databases (ExAC no frequency). 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 not expected to disrupt CYP4V2 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004816912 SCV005070433 uncertain significance Retinal dystrophy 2023-01-01 criteria provided, single submitter clinical testing

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