ClinVar Miner

Submissions for variant NM_000133.4(F9):c.517G>A (p.Ala173Thr)

dbSNP: rs865782271
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001812297 SCV001470963 uncertain significance not provided 2019-11-01 criteria provided, single submitter clinical testing The F9 c.517G>A; p.Ala173Thr variant (rs865782271), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The alanine at codon 173 is moderately conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. However, other variants at this codon (Ala173Val, Ala173Gly, Ala173Pro) are reported in individuals with hemophilia B (Chavali 2009, Rydz 2013, see F9 database link). Due to limited information, the clinical significance of the p.Ala173Thr variant is uncertain at this time. REFERENCES Link to F9 Variant Database: http://f9-db.eahad.org/index.php Chavali S et al. Hemophilia B is a quasi-quantitative condition with certain mutations showing phenotypic plasticity. Genomics. 2009 Dec;94(6):433-7. Rydz N et al. The Canadian "National Program for hemophilia mutation testing" database: a ten-year review. Am J Hematol. 2013 Dec;88(12):1030-4.
Natera, Inc. RCV001830081 SCV002083700 uncertain significance Hereditary factor IX deficiency disease 2020-10-08 no assertion criteria provided clinical testing

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