Case Report
Copyright ©The Author(s) 2021.
World J Clin Cases. Jul 26, 2021; 9(21): 6081-6090
Published online Jul 26, 2021. doi: 10.12998/wjcc.v9.i21.6081
Table 1 Functional evaluation of the c.687C>A (p.Y229X) mutation in special AT-rich sequence binding protein 2 according to the guidelines from American College of Medical Genetics and Genomics[20]

Weight for pathopoiesisPathogenic criterion for the mutation
Functional evaluationPVS1 (very strong)Null variant in SATB2 where loss of function is a known mechanism of the disease
PM2 (moderate)Absence in population database
PP3 (supporting)Multiple lines of computational evidence support a deleterious effect on the gene/gene production
Probably damagingDamagingDisease causing
Final evaluationPathogenic