ClinVar Miner

Submissions for variant NM_000133.4(F9):c.122T>G (p.Leu41Arg)

gnomAD frequency: 0.00001  dbSNP: rs371373268
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035253 SCV001198575 uncertain significance Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 41 of the F9 protein (p.Leu41Arg). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is present in population databases (rs371373268, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with F9-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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.
Natera, Inc. RCV001827212 SCV002083692 uncertain significance Hereditary factor IX deficiency disease 2021-10-01 no assertion criteria provided clinical testing

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