Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
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, |
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, |
RCV000000959 | SCV000804493 | pathogenic | Autosomal recessive congenital ichthyosis 5 | 2018-04-23 | no assertion criteria provided | clinical testing |