ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1523G>A (p.Arg508His) (rs119103284)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000002273 SCV001369725 likely pathogenic Bietti crystalline corneoretinal dystrophy 2020-01-19 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PP3.
Invitae RCV001238176 SCV001410975 uncertain significance not provided 2019-08-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 508 of the CYP4V2 protein (p.Arg508His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs119103284, ExAC 0.01%). This variant has been observed in individuals affected with clinical features of Bietti crystalline corneoretinal dystrophy (PMID: 15042513, Invitae). ClinVar contains an entry for this variant (Variation ID: 2189). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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 RCV000002273 SCV000022431 pathogenic Bietti crystalline corneoretinal dystrophy 2004-05-01 no assertion criteria provided literature only
GeneReviews RCV000002273 SCV000056199 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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