Fig. 5.

Scaling down the PVS1 criteria of a canonical splice site variant in CASK. Segregation, RT-PCR and SpliceAI RS of NM_003688.3(CASK):c.172 + 1G > A, hemizygous in patient 3. This variant leads to the complete in-frame retention of 18 bp (no wild-type 297 bp product was observed in patient 3 RT-PCR lane), as predicted by SpliceAI-visual. This 18-bp retention does not include stop codon and is predicted to insert 6 amino acids