ClinVar

Description

Variant summary: PTEN c.-913T>C (also known as c.-912T>C) is located in the untranslated mRNA region upstream of the initiation codon. The variant was absent in 30738 control chromosomes (gnomAD, genome dataset). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. The variant, c.-913T>C, has been reported in the literature to be found in a cohort consisting of individuals who met the relaxed criteria for with Cowden Syndrome (Nizialek 2015; variant was described as c.-912T>C using an alternate numbering). This report however, does not provide unequivocal conclusions about association of the variant with Cowden Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.