ClinVar Miner

Submissions for variant NM_000132.4(F8):c.5950G>C (p.Val1984Leu)

gnomAD frequency: 0.00003  dbSNP: rs782504844
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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 RCV001001231 SCV001158394 uncertain significance Hereditary factor VIII deficiency disease 2019-04-19 criteria provided, single submitter clinical testing The F8 c.5950G>C; p.Val1984Leu variant (rs782504844), to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is found on only three chromosomes (3/204581 alleles) in the Genome Aggregation Database, indicating it is not a common polymorphism. Computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated, but the valine at codon 1984 is highly conserved, and other amino acid substitutions at nearby codons (p.Phe1982Leu, p.Arg1985Gln, p.Lys1986Ile) have been reported in individuals with hemophilia A (Factor VIII database and references therein). However, given the lack of clinical and functional data, the significance of the p.Val1984Leu variant is uncertain at this time. References: Factor VIII database: http://www.factorviii-db.org

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