Framework From a Multidisciplinary Approach for Transitioning Variants of Unknown Significance From Clinical Genetic Testing in Kidney Disease to a Definitive Classification.

ABSTRACT:

Introduction

Monogenic causes in over 300 kidney-associated genes account for approximately 12% of end stage kidney disease (ESKD) cases. Advances in sequencing and large customized panels enable the noninvasive diagnosis of monogenic kidney disease at relatively low cost, thereby allowing for more precise management for patients and their families. A major challenge is interpreting rare variants, many of which are classified as variants of unknown significance (VUS). We present a framework in which we thoroughly evaluated and provided evidence of pathogenicity for HNF1B-p.Arg303His, a VUS returned from clinical diagnostic testing for a kidney transplant candidate.

Methods

A blueprint was designed by a multidisciplinary team of clinicians, molecular biologists, and di

SUBMITTER: Mirshahi UL 

PROVIDER: S-EPMC9459028 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature