ClinVar Miner

Submissions for variant NM_000132.3(F8):c.6296T>A (p.Ile2099Asn) (rs1603432784)

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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 RCV001002040 SCV001159865 likely pathogenic Hereditary factor VIII deficiency disease 2018-08-06 criteria provided, single submitter clinical testing The F8 c.6296T>A; p.Ile2099Asn variant, also known as Ile2080Asn, is reported in individuals with Hemophilia A (see F8 database, Rydz 2013). This variant is absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The isoleucine at codon 2099 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict this variant is deleterious. Based on available information, this variant is considered to be likely pathogenic. REFERENCES F8 Variant Database link: Rydz N et al. The Canadian National Program for hemophilia mutation testing" database: a ten-year review. Am J Hematol. 2013 Dec;88(12):1030-4. "

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