Clinical utility of periodic reinterpretation of CNVs of uncertain significance: an 8-year retrospective study.

ABSTRACT:

Background

Array-CGH is the first-tier genetic test both in pre- and postnatal developmental disorders worldwide. Variants of uncertain significance (VUS) represent around 10~15% of reported copy number variants (CNVs). Even though VUS reanalysis has become usual in practice, no long-term study regarding CNV reinterpretation has been reported.

Methods

This retrospective study examined 1641 CGH arrays performed over 8 years (2010-2017) to demonstrate the contribution of periodically re-analyzing CNVs of uncertain significance. CNVs were classified using AnnotSV on the one hand and manually curated on the other hand. The classification was based on the 2020 American College of Medical Genetics (ACMG) criteria.

Results

Of the 1641 array-CGH analyzed, 259 (15.7%) showed a

SUBMITTER: Ravel JM 

PROVIDER: S-EPMC10204260 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature