. 2023 Apr 27;13(5):1093. doi: 10.3390/life13051093

Table 2.

DHX37 and NR5A1 variants identified in 46,XY PGD patients of this study.

Patient	Gene	Nucleotide/Amino Acid Alteration	SNP ID	Allele Frequency/Allele Count *	In Silico Prediction Tools					Inheritance
Patient	Gene	Nucleotide/Amino Acid Alteration	SNP ID	Allele Frequency/Allele Count *	ACMG Guidelines	CADD Score	Mutation Taster	PolyPhen	SIFT	Inheritance
1	*DHX37*	c.923G>A/ p.Arg308Gln	rs1384892917	0.00006490 ¹/1	Pathogenic	33	Disease causing	Probably damaging	Deleterious	Mother: WT Father: NA
2	*DHX37*	c.1399C>G/ p.Leu467Val	rs149331610	0.0002952 ¹/38	VUS	22.2	Disease causing	Probably damaging	Deleterious	Maternal
2	*NR5A1*	c.288_304del/ p.(Met98Glyfs*45)	NA	NA	-	NA	-	-	-	Paternal
3	*DHX37*	c.2995G>A/ p.Val999Met	rs148710712	0.002316 ²/54	Likely Benign	24.8	Disease causing	Probably damaging	Deleterious	Paternal
3	*NR5A1*	c.11C>A/ p.(Ser4*)	NA	NA	-	37	-	-	-	de novo
4	*DHX37*	c.2995G>A/ p.Val999Met	rs148710712	0.002316 ²/54	Likely Benign	24.8	Disease causing	Probably damaging	Deleterious	NA

NA: not available; SNP ID: single nucleotide polymorphism identification. VUS: variant of unknown significance; WT: wild type. * For this project, data from GnomAD (Genome Aggregation Database) database v2.1.1 were used based on the population with the highest allele frequency: ¹ European (non-Finnish) population; ² African/African American population.