Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001238122 | SCV001410919 | likely pathogenic | Hereditary factor IX deficiency disease; Thrombophilia, X-linked, due to factor 9 defect | 2019-09-09 | 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.Tyr161 amino acid residue in F9. Other variant(s) that disrupt this residue have been observed in individuals with F9-related conditions (PMID: 27529981), which suggests that this may be a clinically significant amino acid residue. This variant has been reported to affect F9 protein function (PMID: 29993188). This variant has been observed in individuals affected with hemophilia B (PMID: 7937052, 19699296). This variant is also known as A17759G (p.Tyr115Cys) in the literature. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with cysteine at codon 161 of the F9 protein (p.Tyr161Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. |