ClinVar

Description

Variant summary: SLC6A17 c.2139T>A (p.Tyr713X) results in a premature termination codon, predicted to cause a truncation of the encoded protein. While this variant is not expected to result in nonsense mediated decay, it is predicted to disrupt the last 15 amino acids of the protein. Current evidence is not sufficient to establish loss-of-function variants in SLC6A17 as causative of disease. The variant was absent in 250530 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.2139T>A in individuals affected with Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. No submitters have reported clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.