ClinVar Miner

Submissions for variant NC_000023.10:g.(154159952_154175972)_(154197828_154212961)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 RCV003486520 SCV004240797 pathogenic Hereditary factor VIII deficiency disease 2023-12-11 criteria provided, single submitter clinical testing Variant summary: The variant involves the deletion of exons 7-13 in the F8 gene. A presumed nomenclature of c.(787+1_788-1)_(2113+1_2114-1)del has been designated for the purposes of this classification. The variant was absent in 16079 control chromosomes (gnomAD, structural variants dataset). c.(787+1_788-1)_(2113+1_2114-1)del has been reported in the literature in individuals affected with Factor VIII Deficiency (Hemophilia A) (examples: Minno_2014, Pinto_2016 Azadmehr_2021). Variants located in the overlapping deleted region (ex: p.Phe312Ser, p.Ser554Gly, p.Arg602Gly) have been classified pathogenic internally. These data indicate that the variant is very likely associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 35014236, 26897466, 24975702). 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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