ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6496C>T (p.Arg2166Ter)

dbSNP: rs137852357
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000010808 SCV002049456 pathogenic Hereditary factor VIII deficiency disease 2021-11-04 criteria provided, single submitter clinical testing The F8 c.6496C>T; p.Arg2166Ter variant (rs137852357), also known as Arg2147Ter, is reported in the literature in several individuals affected with severe hemophilia A (see link to FVIII database and references therein, Feng 2021, Kang 2021, Villarreal-Martinez 2020). This variant is also reported in ClinVar (Variation ID: 10096), but is absent from the 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. Based on available information, this variant is considered to be pathogenic. References: Link to FVIII database: https://f8-db.eahad.org Feng Y et al. Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China. Haemophilia. 2021 Jan;27(1):e88-e92PMID: 33245802. Kang H et al. FVIII inhibitor risk correlated with F8 gene variants in 296 unrelated male Chinese patients with haemophilia A. Haemophilia. 2021 Mar;27(2):e274-e277. PMID: 32897612. Villarreal-Martinez L et al. Molecular genetic diagnosis by next-generation sequencing in a cohort of Mexican patients with haemophilia and report of novel variants. Blood Cells Mol Dis. 2020 Jul;83:102423. PMID: 32224444.
OMIM RCV000010808 SCV000031035 pathogenic Hereditary factor VIII deficiency disease 1988-05-01 no assertion criteria provided literature only

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