ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5308G>A (p.Glu1770Lys)

dbSNP: rs2124000594
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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 RCV001803531 SCV002048307 likely pathogenic Hereditary factor VIII deficiency disease 2020-12-09 criteria provided, single submitter clinical testing The F8 c.5308G>A; p.Glu1770Lys variant, also known as p.Glu1751Lys, is reported in the literature in a single individual affected with severe hemophilia A (Jayandharan 2005). In vitro functional analyses demonstrate that this individual had factor VIII activity of <1% (Jayandharan 2005). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glutamic acid at codon 1770 is moderately conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.891). Based on available information, this variant is considered to be likely pathogenic. References: Jayandharan G et al. Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. Haemophilia. 2005 Sep;11(5):481-91.

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