ClinVar

Description

Variant summary: The variant identified by MLPA or other technology involves the duplication of exons 8-23 in the TRIOBP gene. A presumed nomenclature of c.(3947+1_3948-1)_(*2+1_*3-1)dup has been designated for the purposes of this classification. It has been assumed that this is a tandem duplication in direct orientation (Richardson_GIM_2018, Newman_AJHG_2015). Although exact breakpoints of this duplication are not known, it is expected to result in a large duplication change in the TRIOBP gene. The variant was absent in 21694 control chromosomes (gnomAD, structural variants dataset). 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.(3947+1_3948-1)_(*2+1_*3-1)dup in individuals affected with Autosomal Recessive Nonsyndromic Hearing Loss 28 and no experimental evidence demonstrating its impact on protein function have been reported. 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.