ClinVar Miner

Submissions for variant NM_207352.4(CYP4V2):c.414-1G>A

gnomAD frequency: 0.00015  dbSNP: rs767779208
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001816386 SCV002062569 likely pathogenic not provided 2021-12-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV002267641 SCV002549824 pathogenic Bietti crystalline corneoretinal dystrophy 2022-06-17 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_207352.4:c.801+1G>A._x000D_ Criteria applied: PVS1, PM3_SUP, PP4
Labcorp Genetics (formerly Invitae), Labcorp RCV001816386 SCV004426883 likely pathogenic not provided 2023-04-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1335569). This variant has not been reported in the literature in individuals affected with CYP4V2-related conditions. This variant is present in population databases (rs767779208, gnomAD 0.1%). This sequence change affects an acceptor splice site in intron 3 of the CYP4V2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CYP4V2 are known to be pathogenic (PMID: 15042513, 25118264).

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