Article
Variant-specific RNA testing resolves variants of uncertain significance in exome testing.
BMC genomics - 1 Jul 2026
O'Neill Audrey K, VanNoy Grace E, Gasser Brooklynn, Gage Jessica, Grzybowski Jessica, Horton Carolyn, Holman Melissa, Watson Claire, Ichikawa Shoji, Xiao Changrui, Mittag Dana, Ferren Edwin C, Levine Erika, Barbosa Mafalda, Biddle Joseph, Sadler Laurie, Samons Melissa, Zimmermann Heather, Richardson Marcy E
Abstract excerpt
BACKGROUND: Variants of uncertain significance (VUS) are a substantial barrier to clinical care in genetics, and VUS that are suspected to affect splicing can be particularly difficult to resolve. We used exome sequencing (ES) followed by variant-specific RNA testing to resolve VUS in four separate cases resulting in reclassification to Likely Pathogenic and a positive molecular diagnosis in all cases. RESULTS:...
Read the complete abstract on PubMedTopics
- Humans
- Exome Sequencing
- Exome
- Genetic Variation
- RNA Splicing