ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.332T>C (p.Ile111Thr) (rs119103283)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001047112 SCV001211047 pathogenic not provided 2020-08-07 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 111 of the CYP4V2 protein (p.Ile111Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs119103283, ExAC 0.009%). This variant has been observed in individual(s) with Bietti crystalline corneoretinal dystrophy (PMID: 15042513, 29691984, 23221965). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 2188). 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.
OMIM RCV000002272 SCV000022430 pathogenic Bietti crystalline corneoretinal dystrophy 2004-05-01 no assertion criteria provided literature only
GeneReviews RCV000002272 SCV000056206 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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