ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5417C>T (p.Ser1806Phe) (rs1569559523)

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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 RCV000757246 SCV000885396 likely pathogenic not provided 2017-10-18 criteria provided, single submitter clinical testing The F8 c.5417C>T; p.Ser1806Phe variant is not described in the medical literature, in gene-specific databases, or in the ClinVar database. However, two other variants in this codon, p.Ser1806Pro and p.Ser1806Tyr, are reported in the medical literature in individuals with hemophilia A (Ravanbod 2012, Rydz 2013). The c.5417C>T; p.Ser1806Phe variant is not listed in the dbSNP variant database or in the general population-based database (Exome Variant Server, Genome Aggregation Database). The amino acid at this position is conserved across species and computational algorithms (AlignGVGD, PolyPhen2, SIFT) predict this variant is deleterious. Considering available information, this variant is classified as likely pathogenic. References: Ravanbod S et al. Identification of 123 previously unreported mutations in the F8 gene of Iranian patients with haemophilia A. Haemophilia. 2012 May;18(3):e340-6. 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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