ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1444-3C>G (rs1603435027)

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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 RCV001001168 SCV001158319 likely pathogenic Hereditary factor VIII deficiency disease 2019-04-11 criteria provided, single submitter clinical testing The F8 c.1444-3C>G variant is reported in the literature in an individual affected with severe hemophilia A (Djambas Khayat 2008). 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 highly conserved nucleotide, and computational analyses (Alamut v.2.11) predict that this variant may impact splicing by weakening the nearby canonical acceptor splice site. Indeed, RNA analyses indicated skipping of exon 10 in transcripts from an affected individual with this variant (Djambas Khayat 2008). Based on available information, this variant is considered to be likely pathogenic. References: Djambas Khayat C et al. Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype-genotype correlation. Haemophilia. 2008 Jul;14(4):709-16.

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