ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.130T>A (p.Trp44Arg)

gnomAD frequency: 0.00024  dbSNP: rs119103282
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238785 SCV001411614 uncertain significance not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 44 of the CYP4V2 protein (p.Trp44Arg). This variant is present in population databases (rs119103282, gnomAD 0.08%). This missense change has been observed in individual(s) with Bietti crystalline corneoretinal dystrophy (PMID: 15042513, 28051075). ClinVar contains an entry for this variant (Variation ID: 2187). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
OMIM RCV000002271 SCV000022429 pathogenic Bietti crystalline corneoretinal dystrophy 2004-05-01 no assertion criteria provided literature only
GeneReviews RCV000002271 SCV000056196 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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