ClinVar Miner

Submissions for variant NM_000133.4(F9):c.182A>G (p.Glu61Gly)

dbSNP: rs2148356134
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002018373 SCV002304575 uncertain significance Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2021-07-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt F9 protein function. This sequence change replaces glutamic acid with glycine at codon 61 of the F9 protein (p.Glu61Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with F9-related conditions.

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