ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5186G>A (p.Gly1729Glu) (rs1557278259)

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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 RCV000507903 SCV000603517 pathogenic Hereditary factor VIII deficiency disease 2018-11-06 criteria provided, single submitter clinical testing The F8 c.5186G>A; p.Gly1729Glu variant (also known as Gly1710Glu) has been reported in the literature to be associated with mild hemophilia A (Castaman 2009, Lannoy 2012). This variant is absent from the general population databases (Exome Variant Server, Genome Aggregation Database). The glycine at codon 1729 is well conserved and computational algorithms (SIFT, PolyPhen2, MutationTaster) predict this variant to be damaging to the protein. Taken together, this variant is considered pathogenic. References: Castaman G et al. Molecular and phenotypic determinants of the response to desmopressin in adult patients with mild hemophilia A. J Thromb Haemost. 2009 Nov;7(11):1824-31. Lannoy N et al. Computational and molecular approaches for predicting unreported causal missense mutations in Belgian patients with haemophilia A. Haemophilia. 2012 May;18(3):e331-9.

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