ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.844C>T (p.Arg282Trp)

gnomAD frequency: 0.00001  dbSNP: rs767352854
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000678430 SCV000915822 uncertain significance Autosomal recessive congenital ichthyosis 5 2017-06-23 criteria provided, single submitter clinical testing The CYP4F22 c.844C>T (p.Arg282Trp) variant has been reported in two studies and is found in a total of three patients with congenital ichthyosis (Buckova et al. 2015; Feng et al. 2017). In two siblings born to consanguinous parents, the p.Arg282Trp variant was detected in a homozygous state (Feng et al. 2017). One of the siblings was described to have a mild clinical presentation, while clinical features were not provided for the other. A third sibling in this family was described as clinically affected, but died in infancy due to infection and so was not tested. Family studies identified the p.Arg282Trp variant in a heterozygous state in the unaffected parents and an unaffected sister. Buckova et al. (2015) reported the p.Arg282Trp variant in a compound heterozygous state with another missense variant in a 4 year old child with pronounced scaling on the face, scalp and legs who was born with a collodion membrane. Functional studies and control data are unavailable for this variant, which is reported at a frequency of 0.00001 in the Total population of the Genome Aggregation Database. The p.Arg282Trp variant is therefore classified as a variant of unknown significance but suspicious for pathogenicity for congenital ichthyosis. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Institute for Human Genetics, University Medical Center Freiburg RCV000678430 SCV000804504 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.