ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1010-9T>A (rs1603435287)

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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 RCV001000761 SCV001157812 uncertain significance Hereditary factor VIII deficiency disease 2018-08-17 criteria provided, single submitter clinical testing The F8 c.1010-9T>A variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and 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 simultaneously creating a novel acceptor splice site and weakening the nearby canonical acceptor splice site. If this novel splice site were utilized, this would create a frameshift and would be predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. However, considering available information, the clinical significance of this variant cannot be determined with certainty.

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