ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs)

dbSNP: rs1342455699
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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 RCV001802749 SCV002049900 pathogenic Hereditary factor VIII deficiency disease 2020-10-05 criteria provided, single submitter clinical testing The F8 c.5379_5381delinsGA; p.Phe1794ThrfsTer77 variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant causes a frameshift by deleting three nucleotides and inserting two, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, downstream truncating variants have been described in individuals with hemophilia A and are considered disease-causing (Factor VIII database and references therein). Based on available information, this variant is considered to be pathogenic. References: Factor VIII database: http://f8-db.eahad.org/

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