ClinVar Miner

Submissions for variant NM_000132.4(F8):c.6697G>T (p.Gly2233Trp)

dbSNP: rs2072692745
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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 RCV001289767 SCV001477753 likely pathogenic Hereditary factor VIII deficiency disease 2019-08-29 criteria provided, single submitter clinical testing The F8 c.6697G>T; p.Gly2233Trp variant is reported in the literature in several individuals with mild hemophilia A and factor VIII activity measured between 18% and 44% of normal (Factor VIII database and references therein). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glycine at codon 2233 is highly conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, this variant is considered to be likely pathogenic. REFERENCES Factor VIII database: http://f8-db.eahad.org

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