ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6057C>A (p.Cys2019Ter)

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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 RCV004800837 SCV005422750 pathogenic Hereditary factor VIII deficiency disease 2024-10-30 criteria provided, single submitter clinical testing Variant summary: F8 c.6057C>A (p.Cys2019X) 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. The variant was absent in 183340 control chromosomes (gnomAD). c.6057C>A has been reported in the literature in individual(s) affected with Factor VIII Deficiency (Hemophilia A) (e.g. Johnsen_2017, Johnsen_2022). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 29296726, 35770352). No submitters have cited clinical-significance assessments for this variant to ClinVar. Based on the evidence outlined above, the variant was classified as pathogenic.

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