ClinVar Miner

Submissions for variant NM_000133.4(F9):c.718T>G (p.Trp240Gly)

dbSNP: rs1390220758
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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 RCV002009981 SCV002281738 likely pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2021-03-03 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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.Trp240 amino acid residue in F9. Other variant(s) that disrupt this residue have been observed in individuals with F9-related conditions (PMID: 1579901, 16270648, 22544209), which suggests that this may be a clinically significant amino acid residue. 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. This variant has been observed in individual(s) with factor IX deficiency (Invitae). This sequence change replaces tryptophan with glycine at codon 240 of the F9 protein (p.Trp240Gly). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and glycine.

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