ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)

gnomAD frequency: 0.00001  dbSNP: rs768098854
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001552346 SCV001773016 likely pathogenic not provided 2021-02-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30011118, 27025581)
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155281 SCV003845119 likely pathogenic Lamellar ichthyosis 2023-02-21 criteria provided, single submitter clinical testing Variant summary: CYP4F22 c.727C>T (p.Arg243Cys) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 251400 control chromosomes (gnomAD). c.727C>T has been reported in the literature in bi-allelic individuals affected with Lamellar Ichthyosis (example: Pigg_2016). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. A different variant affecting the same amino acid (p.R243H) is classified pathogenic by our lab and in ClinVar. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic/likely pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Institute for Human Genetics, University Medical Center Freiburg RCV000678426 SCV000804500 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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