While we suspect this variant could be pathogenic, at this time clinical significance of this variant is uncertain due to lack of conclusive functional and genetic evidence.
Looking in literature about associations. We found that RTH-beta is associated with an increased risk for autoimmune thyroid disease [13]. Thus, the presence of antibodies to thyroid peroxidase and thyroglobulin should not detract from the investigation of RTH-beta if thyroid function tests suggest this possibility. Both antibodies were found to be positive in our patient, so now we are closely monitoring her for development of other autoimmune disease.