The aim of the study was to reclassify genomic variants in the group of subjects with developmental delay, with or without associated developmental abnormalities, in the database of the Clinical Institute for Genomic Medicine, using new ACMG guidelines. In our study, we confirmed that molecular karyotyping in children with developmental delay and associated neurological features yields a diagnostic rate of approximately 11,9 %. The results highlight the remarkable genetic heterogeneity and clinical diversity of this population, where a substantial proportion of variants of uncertain significance are reclassified into more definitive categories following reevaluation, emphasizing the importance of regular updates to the interpretation of genetic findings. Nevertheless, in approximately 80 % of cases, the underlying cause remains unexplained, indicating the need for further research and the implementation of advanced molecular techniques. Our work confirms that the reanalysis of genomic variants is a critical and necessary step in modern clinical genetics to improve diagnostics and patient counseling.
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