Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
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. |
| Department of Pathology and Laboratory Medicine, |
RCV000678429 | SCV005915418 | pathogenic | Autosomal recessive congenital ichthyosis 5 | 2023-07-24 | criteria provided, single submitter | research | |
| Institute for Human Genetics, |
RCV000678429 | SCV000804503 | pathogenic | Autosomal recessive congenital ichthyosis 5 | 2018-04-23 | no assertion criteria provided | clinical testing |