ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1439T>C (p.Leu480Pro) (rs1256548419)

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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 RCV001000774 SCV001157827 uncertain significance Hereditary factor VIII deficiency disease 2018-09-02 criteria provided, single submitter clinical testing The F8 c.1439T>C; p.Leu480Pro variant, also known as p.Leu461Pro, is reported in the literature in a single individual affected with moderate Hemophilia A (Xue 2010). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The leucine at codon 480 is highly conserved, computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious, and structural modeling suggests that a proline at this position would sterically clash with another residue in a manner that could affect protein structure (Xue 2010). However, given the lack of clinical and functional data, the significance of the p.Leu480Pro variant is uncertain at this time. References: Xue F et al. Factor VIII gene mutations profile in 148 Chinese hemophilia A subjects. Eur J Haematol. 2010 Sep;85(3):264-72.

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