Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003486499 | SCV004241594 | pathogenic | Hereditary factor VIII deficiency disease | 2023-12-22 | criteria provided, single submitter | clinical testing | Variant summary: The variant involves the deletion of exon 15 in the F8 gene. A presumed nomenclature of c.(5219+1_5220-1)_(5373+1_5374-1)del has been designated for the purposes of this classification. This Copy Number Variant (CNV) is expected to alter the reading frame and predicted to result in a truncation or absence of the encoded protein due to nonsense mediated decay (NMD). The variant was absent in 16120 control chromosomes (gnomAD, structural variants dataset). c.(5219+1_5220-1)_(5373+1_5374-1)del has been reported in the literature in the hemizygous state in at least one individual affected with Factor VIII Deficiency (Hemophilia A) (e.g. You_2013). These data suggest the variant is very likely associated with disease. The following publication has been ascertained in the context of this evaluation (PMID: 23551875). 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. |