Based on WES data, the girl has a missense variant of uncertain significance—chr19:g.38993563 G>C, NM_000540.3:c.7879G>C (p.Val2627Leu) (rs914804033)—in RYR1 gene, in which pathogenic variants are known to be associated with malignant hyperthermia susceptibility (OMIM # 145600) but seemingly not with a CCHS condition. Here, RYR1 is linked to Malignant hyperthermia.