ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1348C>T (p.Gln450Ter) (rs199476204)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001046642 SCV001210553 pathogenic not provided 2019-12-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln450*) in the CYP4V2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Bietti crystalline dystrophy (PMID: 15937078). ClinVar contains an entry for this variant (Variation ID: 39256). Loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264). For these reasons, this variant has been classified as Pathogenic.
GeneReviews RCV000032533 SCV000056197 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.
OMIM RCV000032533 SCV000246150 pathogenic Bietti crystalline corneoretinal dystrophy 2005-06-01 no assertion criteria provided literature only

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