ClinVar Miner

Submissions for variant NM_000132.3(F8):c.5422C>T (p.Leu1808Phe) (rs137852445)

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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 RCV000010991 SCV001158529 likely pathogenic Hereditary factor VIII deficiency disease 2019-06-03 criteria provided, single submitter clinical testing The F8 c.5422C>T; p.Leu1808Phe variant (rs137852445), also known as Leu1789Phe in traditional nomenclature, is published in the medical literature in several individuals with mild hemophilia A (Arruda 1995, Diamond 1992). The variant is reported in the ClinVar database (Variation ID: 10278) but 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 highly conserved but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Considering available information, this variant is classified as likely pathogenic. References: Arruda VR et al. Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients. Blood. 1995 Oct 15;86(8):3015-20. Diamond C et al. Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A. Hum Mutat. 1992;1(3):248-57.
OMIM RCV000010991 SCV000031218 pathogenic Hereditary factor VIII deficiency disease 1993-12-01 no assertion criteria provided literature only

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