ClinVar Miner

Submissions for variant NM_173483.4(CYP4F22):c.429dup (p.Leu144fs)

dbSNP: rs1382435790
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Total submissions: 2
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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 RCV003226369 SCV003922442 likely pathogenic Lamellar ichthyosis 2023-03-15 criteria provided, single submitter clinical testing Variant summary: CYP4F22 c.429dupG (p.Leu144AlafsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 8e-06 in 251400 control chromosomes. c.429dupG has been reported in the literature in a family affected with congenital ichthyosiform erythroderma (Israeli_2013), and they were reported as compound heterozygous with another likely pathogenic variant. This suggests the variant is likely to be pathogenic. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One submitter has provided a clinical-significance assessment 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 likely pathogenic.
Institute for Human Genetics, University Medical Center Freiburg RCV000678429 SCV000804503 pathogenic Autosomal recessive congenital ichthyosis 5 2018-04-23 no assertion criteria provided clinical testing

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