ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.1020G>A (p.Trp340Ter)

dbSNP: rs199476198
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001852653 SCV002242018 pathogenic not provided 2021-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 39248). This premature translational stop signal has been observed in individual(s) with CYP4V2-related conditions (PMID: 16088246, 28512305, 29785639). This variant is present in population databases (rs199476198, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Trp340*) in the CYP4V2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264).
Dept Of Ophthalmology, Nagoya University RCV003887875 SCV004706591 pathogenic Retinal dystrophy 2023-10-01 criteria provided, single submitter research
GeneReviews RCV000032525 SCV000056188 pathologic Bietti crystalline corneoretinal dystrophy 2012-04-12 no assertion criteria provided curation Converted during submission to Pathogenic.

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