ClinVar Miner

Submissions for variant NM_000132.3(F8):c.1666G>A (p.Val556Ile) (rs372867215)

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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 RCV001000745 SCV001157793 uncertain significance Hereditary factor VIII deficiency disease 2018-08-03 criteria provided, single submitter clinical testing The F8 c.1666G>A; p.Val556Ile variant (rs372867215), to our knowledge, is not reported in the medical literature or gene specific databases. This variant is found in the general population with an overall allele frequency of 0.004% (8/200264 alleles, including 2 hemizygotes) in the Genome Aggregation Database. Another variant at this codon (c.1667C>T, p.Val556Asp) has been reported in at least one individual with hemophilia A, and is considered moderately severe (Tavassoli 1998, Factor VIII Variant Database). The valine at codon 556 is weakly conserved, and computational analyses (SIFT, PolyPhen-2) predict that the p.Val556Ile variant is tolerated. Due to limited information, the clinical significance of the p.Val556Ile variant is uncertain at this time. Reference: Link to Factor VIII Variant Database: http://www.factorviii-db.org/ Tavassoli K et al. Molecular diagnostics of 15 hemophilia A patients: characterization of eight novel mutations in the factor VIII gene, two of which result in exon skipping. Hum Mutat. 1998;12(5):301-3.

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