ClinVar

Description

Variant summary: F11 c.1288G>T (p.Ala430Ser) results in a conservative amino acid change located in the Serine proteases, trypsin domain (IPR001254) of the encoded protein sequence. Four of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 251190 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.1288G>T has been reported in the literature in individuals affected with Hereditary factor XI deficiency disease (Saunders_2009). This report does not provide unequivocal conclusions about association of the variant with Hereditary factor XI deficiency disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publication have been ascertained in the context of this evaluation (PMID: 19652879). No submitters have cited clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.