ClinVar Miner

Submissions for variant NM_000132.4(F8):c.1202G>A (p.Trp401Ter)

dbSNP: rs2073424782
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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 RCV001285586 SCV001472046 pathogenic Hereditary factor VIII deficiency disease 2020-07-20 criteria provided, single submitter clinical testing The F8 c.1202G>A; p.Trp401Ter variant is reported in an individual affected with hemophilia A with negligible F8 activity (see link to F8 database). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant induces an early termination codon and is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Additionally, another variant leading to the same nonsense change (c.1203G>A; p.Trp401Ter) has been reported in individuals with hemophilia A and is considered disease-causing (Ahmed 2005, see linked to F8 database). Based on available information, the c.1202G>A; p.Trp401Ter variant is considered to be pathogenic. References: Link to F8 database: http://f8-db.eahad.org/ Ahmed RP et al. Identification of 32 novel mutations in the factor VIII gene in Indian patients with hemophilia A. Haematologica. 2005;90(2):283-284.

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