Aiko Igarashi

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome.

Findings demonstrate that c.5273A>G functions as a LoF variant through dual aberrant splicing rather than a simple missense substitution, which underscores the importance of RNA-level splicing analysis for the accurate interpretation and classification of CHD7 missense variants.