ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.541A>G (p.Ile181Val)

gnomAD frequency: 0.00010  dbSNP: rs201006021
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000276845 SCV000336758 uncertain significance not provided 2015-11-07 criteria provided, single submitter clinical testing
Invitae RCV000276845 SCV001497436 uncertain significance not provided 2022-04-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 181 of the CYP4V2 protein (p.Ile181Val). This variant is present in population databases (rs201006021, gnomAD 0.008%). 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: 284229). 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.

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