ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.940-1G>A

dbSNP: rs1568362605
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003727806 SCV004539094 likely pathogenic not provided 2023-08-04 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: 560318). Disruption of this splice site has been observed in individual(s) with congenital ichthyosis (PMID: 30011118). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 8 of the CYP4F22 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 CYP4F22 are known to be pathogenic (PMID: 16436457, 24397709, 26762237).
Institute for Human Genetics, University Medical Center Freiburg RCV000678410 SCV000804481 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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