ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5953C>T (p.Arg1985Ter)

dbSNP: rs137852452
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000011013 SCV001160447 pathogenic Hereditary factor VIII deficiency disease 2019-04-18 criteria provided, single submitter clinical testing The F8 c.5953C>T; p.Arg1985Ter variant (rs137852452), also known as p.Arg1966Ter in traditional nomenclature, is reported in the literature in multiple individuals affected with severe hemophilia A (see link to Factor VIII database and references therein, Lu 2018, Wang 2010). This variant is reported in ClinVar (Variation ID: 10300), and 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. Based on available information, this variant is considered to be pathogenic. References: Link to Factor VIII Database for p.Arg1985Ter: http://www.factorviii-db.org/advance_search_results.php?dosearch=1&codon=1985 Lu Y et al. Spectrum and origin of mutations in sporadic cases of haemophilia A in China. Haemophilia. 2018 Mar;24(2):291-298. Wang XF et al. The prevalence of factor VIII inhibitors and genetic aspects of inhibitor development in Chinese patients with haemophilia A. Haemophilia. 2010 Jul 1;16(4):632-9.
GeneDx RCV005252677 SCV005906368 pathogenic not provided 2024-10-01 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 20838461, 20331753, 25525159, 29381227, 35924581, 36595620, 33245802, 33706050, 32897612, 18388498, 12325022, 38196513, 30534853, 16128892, 15996930, 37711502, 8054459, 18691168, 11748850, 10338101, 16601827, 16493501, 8490618, 8307558, 1412186, 35014236)
OMIM RCV000011013 SCV000031240 pathogenic Hereditary factor VIII deficiency disease 1994-04-01 no assertion criteria provided literature only

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