Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV003493337 | SCV004241727 | pathogenic | Familial dysfibrinogenemia | 2023-12-27 | criteria provided, single submitter | clinical testing | Variant summary: The variant involves the deletion of exons 1-9 in the FGG gene. A presumed nomenclature of c.(?_-48)_(*664_?)del has been designated for the purposes of this classification. This deletion includes the entire coding sequence of the gene. As the exact proximal and distal breakpoints are unknown, it may extend beyond the annotated region of the gene to include other flanking genes. The variant allele was found at a frequency of 2.3e-06 in 441,905 control chromosomes in the gnomAD database (CNVs v4.0 dataset). To our knowledge, no occurrence of c.(?_-48)_(*664_?)del in individuals affected with Congenital Dysfibrinogenemia and no experimental evidence demonstrating its impact on protein function have been reported. However, several predicted loss of function (pLoF) variants (e.g. nonsense, frameshift) are reported in patients affected with Afibrinogenaemia (HGMD). 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. |