ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.974C>T (p.Thr325Ile) (rs199476196)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001362372 SCV001558384 uncertain significance not provided 2020-09-02 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 325 of the CYP4V2 protein (p.Thr325Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs199476196, ExAC 0.009%). This variant has been observed in individual(s) with Bietti crystalline dystrophy (PMID: 18398705). ClinVar contains an entry for this variant (Variation ID: 39274). 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. 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.
GeneReviews RCV000032551 SCV000056218 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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