ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.728G>A (p.Arg243His)

gnomAD frequency: 0.00001  dbSNP: rs118203937
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001731266 SCV001983707 pathogenic Lamellar ichthyosis 2021-09-30 criteria provided, single submitter clinical testing Variant summary: CYP4F22 c.728G>A (p.Arg243His) 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 3.6e-05 in 251406 control chromosomes. c.728G>A has been reported in the literature as a homozygous or compound heterozygous in multiple well phenotyped and comprehensively genotyped individuals affected with Autosomal Recessive Congenital Ichthyosis/Lamellar Ichthyosis (example, Lefevre_2006, Noguera-Morel_2016, Fakhro_2019, Esperon-Moldes_2020). These data indicate that the variant is very likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000000959 SCV002811705 pathogenic Autosomal recessive congenital ichthyosis 5 2022-03-23 criteria provided, single submitter clinical testing
OMIM RCV000000959 SCV000021109 pathogenic Autosomal recessive congenital ichthyosis 5 2006-03-01 no assertion criteria provided literature only
Institute for Human Genetics, University Medical Center Freiburg RCV000000959 SCV000804493 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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