ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.400G>T (p.Gly134Ter) (rs199476189)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001093468 SCV001250475 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing
Invitae RCV001093468 SCV001589653 pathogenic not provided 2020-05-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly134*) in the CYP4V2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs199476189, ExAC 0.06%). This variant has been observed in individual(s) with Bietti crystalline corneoretinal dystrophy (PMID: 15042513). ClinVar contains an entry for this variant (Variation ID: 39265). 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 RCV000032542 SCV000056209 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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