ClinVar Miner

Submissions for variant NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003479725 SCV004223407 pathogenic Hereditary factor VIII deficiency disease 2023-11-07 criteria provided, single submitter clinical testing Variant summary: F8 c.3137C>A (p.Ser1046X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Variants downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 181917 control chromosomes (gnomAD). c.3137C>A has been reported in the literature in at-least one individual affected with sporadic Factor VIII Deficiency (Hemophilia A) (example: Lu_2018). The following publication has been ascertained in the context of this evaluation (PMID: 29381227). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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