ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.430C>T (p.Arg144Cys)

gnomAD frequency: 0.00001  dbSNP: rs757683326
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001241976 SCV001415034 uncertain significance not provided 2022-07-19 criteria provided, single submitter clinical testing 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. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 144 of the CYP4V2 protein (p.Arg144Cys). This variant is present in population databases (rs757683326, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with CYP4V2-related conditions. ClinVar contains an entry for this variant (Variation ID: 967143). 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.

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