ClinVar Miner

Submissions for variant NM_000133.4(F9):c.235G>A (p.Glu79Lys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286620 SCV001473224 likely pathogenic none provided 2019-08-08 criteria provided, single submitter clinical testing The F9 c.235G>A; p.Glu79Lys variant, also known as 6472G>A; Glu33Lys, is reported in the literature in individuals affected with moderate to severe hemophilia B (Belvini 2005, Enayat 2004, Rydz 2013, see link to FIX database and references therein). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The glutamic acid at codon 79 is highly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Additionally, other amino acid substitutions at this codon (Ala, Asp, Gln, Gly, Val) have been reported in individuals with hemophilia B and are considered pathogenic (Belvini 2005, Rydz 2013, FIX database and references therein). Based on available information, the p.Glu79Lys variant is considered to be likely pathogenic References: Link to FIX database: http://www.factorix.org Belvini D et al. Molecular genotyping of the Italian cohort of patients with hemophilia B. Haematologica. 2005 May;90(5):635-42. Enayat MS et al. Mutation analysis in F9 gene of 17 families with haemophilia B from Iran. Haemophilia. 2004 Nov;10(6):751-5. 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.

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