ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.1084C>T (p.Arg362Ter)

gnomAD frequency: 0.00001  dbSNP: rs745368359
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426277 SCV000516687 pathogenic not provided 2015-04-29 criteria provided, single submitter clinical testing The R362X variant in the CYP4F22 gene has not been reported previously as a pathogenic variant and it was also not observed in approximately 6,500 individuals of European and African Americanancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in thesepopulations. This variant is predicted to cause loss of normal protein function either through proteintruncation or nonsense-mediated mRNA decay. Therefore, we interpret R362X as a pathogenic variant.
Institute for Human Genetics, University Medical Center Freiburg RCV000678436 SCV000804510 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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