ClinVar Miner

Submissions for variant NM_000132.4(F8):c.2118_2119dup (p.Trp707fs)

dbSNP: rs2124054281
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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 RCV001802625 SCV002049116 pathogenic Hereditary factor VIII deficiency disease 2021-08-03 criteria provided, single submitter clinical testing The F8 c.2118_2119dupAT; p.Trp707TyrfsTer16 variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. This variant causes a frameshift by inserting two nucleotides, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, another frameshift variant at this codon (c.2118dupA; p.Trp707MetfsTer23) has been reported in an individuals with severe hemophilia A and is considered disease causing (Gouw 2011). Based on available information, this variant is considered to be pathogenic. References: Gouw SC et al. Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients. Haemophilia. 2011 Mar;17(2):275-81. PMID: 21070499.

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