DYNC2H1 and Jeune syndrome: For the synonymous variant, SpliceAI predicts a moderate impact on splicing (SpliceAI AL=0.51); further literature searches showed the variant has been reported to cause exon 75 skipping and premature termination of the transcript in RNA (p.(Ile3675Aspfs*2)).25 It has also been reported in trans with a pathogenic DYNC2H1 exon four deletion in another patient with Jeune syndrome,26 providing additional support for pathogenicity using ACMG criteria.