Submissions for variant NM_000133.4(F9):c.1086del (p.Arg364fs)

Total submissions: 1

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV003330477	SCV004039510	pathogenic	Hereditary factor IX deficiency disease	2023-08-15	criteria provided, single submitter	clinical testing	Variant summary: F9 c.1086delA (p.Arg364AspfsX4) 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. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 183179 control chromosomes (gnomAD). c.1086delA has been reported in the literature in at least one individual affected with Factor IX Deficiency (Hemophilia B) (Wulff_2001, Rallapalli_2013). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 23617593). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.