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VUS – not clinically actionable — RACP Paediatrics MCQ

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ModerateGeneticsVUS – not clinically actionableRACP Paediatrics

During trio exome sequencing for developmental delay, a variant classified as 'variant of uncertain significance' (VUS) is found in a gene with limited evidence of disease association. What is the most appropriate clinical action regarding this VUS?

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Correct answer: E — Variant of uncertain significance (VUS) – not actionable

A VUS should NOT be used for clinical decision-making (diagnosis, management changes, or predictive testing of family members). The family should be counselled that the significance is unclear and may be reclassified with accumulating evidence over time. The laboratory should be contacted for periodic reassessment. Clinical decisions should be based on the clinical picture, not the VUS.

Reference: RACP Paediatric Curriculum – Genetics; ACMG – 2015 – Variant Classification