ClinVar Miner

Submissions for variant NM_000133.4(F9):c.194T>C (p.Met65Thr)

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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 RCV003121521 SCV003786236 uncertain significance Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2022-11-08 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. 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 tolerated. This variant has not been reported in the literature in individuals affected with F9-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.005%). This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 65 of the F9 protein (p.Met65Thr).

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