ClinVar Miner

Submissions for variant NM_000132.4(F8):c.286C>T (p.Gln96Ter)

dbSNP: rs2124146053
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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 RCV001802391 SCV002047928 pathogenic Hereditary factor VIII deficiency disease 2021-03-31 criteria provided, single submitter clinical testing The F8 c.286C>T; p.Gln96Ter variant, also known as Gln77Ter, is reported in the literature in at least one individual affected with severe hemophilia A (Rydz 2013, see link to FVIII 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, several downstream truncating variants have been described in individuals with hemophilia A and are considered pathogenic (see link to FVIII database). Based on available information, this variant is considered to be pathogenic. References: Link to FVIII database: https://f8-db.eahad.org Rydz N et al. The Canadian "National Program for hemophilia mutation testing" database: a ten-year review. Am J Hematol. 2013 Dec;88(12):1030-4.

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