ClinVar Miner

Submissions for variant NM_000133.4(F9):c.1295G>C (p.Gly432Ala)

dbSNP: rs1928130497
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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 RCV001039346 SCV001202876 likely pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2019-01-16 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Gly432 amino acid residue in F9. Other variant(s) that disrupt this residue have been observed in individuals with F9-related conditions (PMID: 9600455, 15086324), suggesting that it is a clinically significant residue. As a result, variants that disrupt this residue are likely to be causative of disease. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individuals affected with hemophilia B disease (PMID: 19699296). This variant is also known as G31278C (G386A) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with alanine at codon 432 of the F9 protein (p.Gly432Ala). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and alanine.

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