EP323: Case-control study to identify key residues and domains within hereditary renal disease gene panel to aid in VUS reclassification

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Historically, the identification of key functional residues and regions in a protein required extensive research and supportive in vitro studies. With the rapid advancement of diagnostics, clinical laboratories are producing large data sets that enable case-control studies of variation. We propose to apply these case-control methods to our hereditary renal disease panel to rapidly identify regions and specific residues in genes enriched with pathogenic variation and allow for better refinement of variant classification through the use of the ACMG/AMP PM1 criterion.