ClinVar

Description

Variant summary: The CFTR c.1209+12T>A variant involves the alteration of a non-conserved intronic nucleotide, which 5/5 splice prediction tools predict no significant impact on normal splicing or ESE binding sites, although these predictions have yet to be functionally assessed. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 6/112318 (1/18719), predominantly in the South Asian cohort, 6/15594 (1/2598), which does not exceed the estimated maximal expected allele frequency for a pathogenic CFTR variant of 1/159. The variant of interest has not been, to our knowledge, reported in affected individuals via publications and/or clinical diagnostic laboratories/databases. Therefore, until additional information becomes available (ie, clinical and functional tudies), the variant of interest has been classified as a "Variant of Uncertain Significance (VUS)."