ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.694C>T (p.Arg232Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075339 SCV001240957 pathogenic Retinal dystrophy 2018-04-03 criteria provided, single submitter clinical testing
Invitae RCV001388598 SCV001589654 pathogenic not provided 2020-08-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg232*) in the CYP4V2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs369063468, ExAC 0.02%). This variant has been observed in individual(s) with a diagnosis of, or clinical features of, Bietti crystalline dystrophy (PMID: 23221965, 25356976). ClinVar contains an entry for this variant (Variation ID: 866939). Loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264). For these reasons, this variant has been classified as Pathogenic.

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