ClinVar Miner

Submissions for variant NM_000132.3(F8):c.575T>C (p.Ile192Thr) (rs1448187077)

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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 RCV000757250 SCV000885400 pathogenic not provided 2017-12-08 criteria provided, single submitter clinical testing The F8 c.575T>C; p.Ile192Thr variant has previously been reported in several individuals with mild hemophilia A (Bogdanova 2007, Green 2008, see F8 database link). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The isoleucine at codon 192 is highly conserved, and computational algorithms (SIFT, PolyPhen2, MutationTaster) predict this variant to be damaging to the protein. Based on the above information, this variant is considered pathogenic. REFERENCES Link to p.Ile192Thr in the F8 Variant Database: http://www.factorviii-db.org/newstructure.php?aa_first=Ile&mut_id=223&aa_last=Thr&variable=223&hash=63d59c3ead760fe82bce36e5d14e98f5 Bogdanova N et al. Spectrum of molecular defects and mutation detection rate in patients with mild and moderate hemophilia A. Hum Mutat. 2007 Jan;28(1):54-60. Green PM et al. Haemophilia A mutations in the UK: results of screening one-third of the population. Br J Haematol. 2008 Oct;143(1):115-28.

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