ClinVar Miner

Submissions for variant NM_000133.4(F9):c.148G>A (p.Gly50Ser)

dbSNP: rs1556435940
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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 RCV000551608 SCV000623929 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2022-09-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 50 of the F9 protein (p.Gly50Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with mild hemophilia B (PMID: 8091381, 8594556, 19699296, 27213901; Invitae). ClinVar contains an entry for this variant (Variation ID: 454495). 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. For these reasons, this variant has been classified as Pathogenic.

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