ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5449C>T (p.Gln1817Ter)

dbSNP: rs2123997982
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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 RCV001802479 SCV002048611 pathogenic Hereditary factor VIII deficiency disease 2021-01-22 criteria provided, single submitter clinical testing The F8 c.5449C>T; p.Gln1817Ter variant is reported in the literature in an individual affected with severe hemophilia A (Pinto 2016). This variant is only observed on one allele in 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: Pinto P et al. F8 gene mutation profile in Indian hemophilia A patients: Identification of 23 novel mutations and factor VIII inhibitor risk association. Mutat Res. 2016 Apr;786:27-33.

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