Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV005240453 | SCV005883935 | pathogenic | Lamellar ichthyosis | 2024-12-26 | criteria provided, single submitter | clinical testing | Variant summary: CYP4F22 c.844C>T (p.Arg282Trp) results in a non-conservative amino acid change located in the Cytochrome P450 domain of 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 1.2e-05 in 251196 control chromosomes. c.844C>T has been reported in the literature in multiple individuals affected with Lamellar Ichthyosis. These data indicate that the variant is very likely to be associated with disease. At least one publication reports experimental evidence evaluating an impact on protein expression. The most pronounced variant effect results in about 50% of normal protein expression. The following publications have been ascertained in the context of this evaluation (PMID: 25998749, 34983512, 27735052, 35014717). ClinVar contains an entry for this variant (Variation ID: 560334). Based on the evidence outlined above, the variant was classified as pathogenic. |
| Institute for Human Genetics, |
RCV000678430 | SCV000804504 | pathogenic | Autosomal recessive congenital ichthyosis 5 | 2018-04-23 | no assertion criteria provided | clinical testing |