ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1294G>A (p.Gly432Ser)

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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 RCV003783796 SCV004571550 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2023-04-15 criteria provided, single submitter clinical testing This missense change has been observed in individuals with hemophilia B (PMID: 7937052, 22639855, 32875744, 34590426). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 432 of the F9 protein (p.Gly432Ser). 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 not expected to disrupt F9 protein function. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Gly432 amino acid residue in F9. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9600455, 15086324, 19699296). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing.

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