Submissions for variant NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu)

dbSNP: rs118091316

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Hadassah Hebrew University Medical Center	RCV000678420	SCV001430591	likely pathogenic	Autosomal recessive congenital ichthyosis 5	2019-06-20	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000678420	SCV001523987	pathogenic	Autosomal recessive congenital ichthyosis 5	2020-01-15	criteria provided, single submitter	clinical testing	This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx	RCV001731881	SCV001981890	pathogenic	not provided	2022-02-15	criteria provided, single submitter	clinical testing	Published functional studies of F59L demonstrate a significant decrease of enzyme activity (Ohno et al., 2015); Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31168818, 16436457, 31130284, 33067036, 26056268)
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center	RCV000678420	SCV004805131	pathogenic	Autosomal recessive congenital ichthyosis 5	2024-03-17	criteria provided, single submitter	research
Institute for Human Genetics, University Medical Center Freiburg	RCV000678420	SCV000804491	pathogenic	Autosomal recessive congenital ichthyosis 5	2018-04-23	no assertion criteria provided	clinical testing
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	RCV000678420	SCV001190815	pathogenic	Autosomal recessive congenital ichthyosis 5	2020-02-05	no assertion criteria provided	clinical testing