Table 2.

Analysis of the c.173C > G variant

	Variant
Gene symbol	ZSWIM7
Full gene name	Zinc finger swim domain-containing protein 7
Position	Exonic
Cytoband	17p12
Region	Chr17:15987294
Transcript identification	NM_001042697.2
Exon involved	Exon 3
cDNA variant	c.173C > G
Protein variant	p.S58*
Translation impact	Stop gain
Genotype	Homozygous
CADD score	39 (pathogenic)
PROVEAN score	-7.28 (deleterious)
MutationTaster	Disease causing
DECIPHER	Predicted nonsense-mediated decay
Allele frequency in gnomAD	0
American College of Medical Genetics classification	Predicted pathogenic (1a)