NF1 and optic pathway glioma: The other reported variants associated with genotype-phenotype correlation and not confirmed in large populations include NM_000267.3(NF1):c.3112A>G p.Arg1038Gly [10], missense or splice-site variants in familial spinal neurofibromatosis [11, 12], pathogenic variants (PVs) in 5′ tertile in patients with optic pathway gliomas [13–15], and non-truncating PVs in patients with pulmonary stenosis [16], missense PVs in the cysteine/serine-rich domain (CSRD) [17] and missense PVs affecting p.Met1149, p.Arg1276, and p.Lys1423 [18].