ClinVar Miner

Submissions for variant NM_000133.4(F9):c.719G>A (p.Trp240Ter)

dbSNP: rs1603265827
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001001415 SCV001158650 pathogenic not specified 2018-08-21 criteria provided, single submitter clinical testing The F9 c.719G>A; p.Trp240Ter variant, also known as Trp194Ter, is published in individuals and families with severe hemophilia (Green 1989, F9 database and references therein). The variant is listed in the ClinVar database (Variation ID: 10583), but is absent from general population databases (1000 Genomes Project, Exome Variant Server, and 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. Considering available information, this variant is classified as pathogenic. References: Link to F9 database: http://www.factorix.org Green PM et al. Molecular pathology of haemophilia B. EMBO J. 1989 Apr;8(4):1067-72.
OMIM RCV002282420 SCV000031560 pathogenic Hereditary factor IX deficiency disease 1989-04-01 no assertion criteria provided literature only

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