ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1952A>C (p.His651Pro) (rs1569559758)

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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 RCV000757253 SCV000885403 likely pathogenic not provided 2018-04-03 criteria provided, single submitter clinical testing The F8 c.1952A>c; p.His651Pro variant, also known as His632Pro, is reported in the medical literature in one individual with reportedly moderate hemophilia A (Rydz 2013) and ARUP laboratories has detected this variant in an individual with moderate hemophilia A. The variant is not reported in the ClinVar database, nor is it present in the general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The histidine at codon 651 is conserved across species, but computational algorithms (PolyPhen-2, SIFT) predict conflicting effects of this variant on protein structure/function. Considering available information, this variant is classified as likely pathogenic. 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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