ClinVar Miner

Submissions for variant NM_000132.4(F8):c.388+1G>A

dbSNP: rs1377354928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001802414 SCV002048011 pathogenic Hereditary factor VIII deficiency disease 2021-03-12 criteria provided, single submitter clinical testing The F8 c.388+1G>A variant (rs1377354928) is reported in the literature in multiple individuals affected with severe hemophilia A (see F8 database and references therein, Rydz 2013). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant disrupts the canonical splice donor site of intron three, which is likely to negatively impact gene function. Based on available information, this variant is considered to be pathogenic. References: Link to F8 database: https://f8-db.eahad.org/index.php Rydz N et al. The Canadian "National Program for hemophilia mutation testing" database: a ten-year review. Am J Hematol. 2013 Dec;88(12):1030-4

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