ClinVar Miner

Submissions for variant NM_000132.4(F8):c.2902G>T (p.Glu968Ter)

dbSNP: rs782176982
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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 RCV001802436 SCV002048473 pathogenic Hereditary factor VIII deficiency disease 2021-10-20 criteria provided, single submitter clinical testing The F8 c.2902G>T; p.Glu968Ter variant (rs782176982) is reported in the literature in at least one individual with hemophilia (Johnsen 2017). This variant 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, other variants in this region that introduce premature termination codons have been described in affected individuals and are considered pathogenic (Johnsen 2017, Wang 2010). Based on available information, this variant is considered to be pathogenic. References: Johnsen JM et al. Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative. Blood Adv. 2017 May 18;1(13):824-834. Wang X et al. The prevalence of factor VIII inhibitors and genetic aspects of inhibitor development in Chinese patients with haemophilia A. Haemophilia. 2010; 16(4):632-9.

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