ClinVar Miner

Submissions for variant NM_000132.3(F8):c.599A>G (p.Glu200Gly) (rs782158761)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519065 SCV000617425 uncertain significance not provided 2017-07-12 criteria provided, single submitter clinical testing The E200G variant in the F8 gene has been reported previously (as E181G due to the use of alternative nomenclature) in affected individuals from two families with hemophilia A (Reitter et al., 2010). The E200G variant is observed in 1/10120 (0.01%) alleles from individuals of South Asian background as a hemizygous finding in the ExAC dataset (Lek et al., 2016). The E200G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Missense variants in nearby residues (L195P, L195R, V197L, V197G, C198R, C198G, C198Y, G201W, G201R, G201E, S202N, S202R, L203R) have been reported in the Human Gene Mutation Database in association with Hemophilia A (Stenson et al., 2014), supporting the functional importance of this region of the protein. We interpret E200G as a variant of uncertain significance.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000851605 SCV000899356 likely pathogenic Abnormality of coagulation 2019-02-01 criteria provided, single submitter research

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