ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1443+5G>A (rs1195283929)

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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 RCV001002370 SCV001160278 likely pathogenic Hereditary factor VIII deficiency disease 2019-02-14 criteria provided, single submitter clinical testing The F8 c.1443+5G>A variant (rs1195283929) is reported in the literature in an individual affected with hemophilia A (Ravanbod 2012). Functional assays indicated this individual had undetectable F8 activity, suggestive of severe disease (Ravanbod 2012). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This is an intronic variant in a moderately conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical donor splice site. Based on available information, this variant is considered to be likely pathogenic. REFERENCES Ravanbod S et al. Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A. Haemophilia. 2012 May;18(3):e340-6.

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