Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

64 The UKBB demonstrates only 1 moderately significant phenotypic association for pLoF variants (mean corpuscular volume) ( https://app.genebass.org/gene/ENSG00000108055 ). 65 Intriguingly, in an analysis of >31,000 individuals with neurodevelopmental phenotypes and their family members, de novo variants in SMC3 were found to be associated with developmental delay (false discovery rate = 3.46E−7), although driven mostly by missense variants. 66 The lack of phenotypic associations with SMC3 pLoF variants in large cohorts could be because of a lack of true association and/or lack of power owing to the rarity of these variants.

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