ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.283G>A (p.Gly95Arg) (rs199476187)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001221420 SCV001393465 pathogenic not provided 2019-07-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 95 of the CYP4V2 protein (p.Gly95Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs199476187, ExAC 0.006%). This variant has been observed in individual(s) with Bietti crystalline corneoretinal dystrophy (PMID: 16179904, 29691984, 25593508, 24739949). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 39261). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Molecular Genetics, University of Zurich RCV000032538 SCV001548158 likely pathogenic Bietti crystalline corneoretinal dystrophy 2021-01-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001221420 SCV001748107 pathogenic not provided 2021-02-01 criteria provided, single submitter clinical testing
GeneReviews RCV000032538 SCV000056204 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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