ClinVar Miner

Submissions for variant NM_000132.3(F8):c.2243A>G (p.Tyr748Cys) (rs1160871723)

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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 RCV001001273 SCV001158448 uncertain significance Hereditary factor VIII deficiency disease 2019-05-22 criteria provided, single submitter clinical testing The F8 c.2243A>G; p.Tyr748Cys variant (rs1160871723) is reported in the medical literature in one individual with mild hemophilia A (Rydz 2013), but insufficient information is provided to assess the report fully. The variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The amino acid at this position is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the variant is uncertain at this time. References: 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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