ClinVar Miner

Submissions for variant NM_000133.4(F9):c.82T>C (p.Cys28Arg)

dbSNP: rs387906481
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001851793 SCV002126918 pathogenic Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect 2021-02-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Cys28 amino acid residue in F9. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22639855, 19699296, 15921378). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. This variant has been observed in individual(s) with hemophilia B (PMID: 7937052, 22639855, 19699296, 15921378). This variant is also known as T111C; Cys-19Arg. ClinVar contains an entry for this variant (Variation ID: 10657). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 28 of the F9 protein (p.Cys28Arg). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and arginine.
OMIM RCV000011402 SCV000031634 pathogenic Hereditary factor IX deficiency disease 2013-09-11 no assertion criteria provided literature only

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