ClinVar Miner

Submissions for variant NC_000004.11:g.(?_155484162)_(155493960_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003486504 SCV004241722 pathogenic Congenital afibrinogenemia 2023-12-27 criteria provided, single submitter clinical testing Variant summary: The variant involves the deletion of exons 1-8 (full coding region) in the FGB gene. A presumed nomenclature of c.(?_-9)_(*2158_?)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 was absent in 21694 control chromosomes (gnomAD Structural variants dataset). To our knowledge, no occurrence of c.(?_-9)_(*2158_?)del in individuals affected with Afibrinogenemia, Congenital and no experimental evidence demonstrating its impact on protein function have been reported. Other loss of function (pLoF) variants are reported in patients affected with Afibrinogenaemia (PMIDs: 12511408, 35488806). 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.

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