Table 3.

Variant of Unknown Significance in Nephrotic Syndrome-related genes found in our cohort.

Sample	Candidate Gene Name	Chromosome	Genomic Variation	cDNA Variation	dbSNP	Allele Frequency	Inheritance	Genotype	Function	ACMG	Phenotype *
48	PLCE1	10	g.95987105A>G	c.1852A>G	rs200180170	0.0004975	AR	Het	Missense	VUS	Unknown ESRD
60	MYO1E	15	g.59450575G>A	c.2789C>T	-	0.0	AR	Het	Missense	VUS	Unknown ESRD
92	COQ6	14	g.74428075T>C	c.1091T>C	rs747211443	0.00001548	AR	Het	Missense	VUS	Unknown ESRD
170	PLCE1	10	g.96013948G>C	c.3281G>C	rs61732523	0.0002567	AR	Het	Missense	Pathogenic (VUS meaning)	Unknown ESRD
			g.95931087G>T	c.1643G>T	rs17417407	0.1667	AR	Het	Missense	Benign (VUS meaning)
191	NPHS1	19	g.36340506A>C	c.658T>G	rs115333628	0.001827	AR	Het	Missense	VUS/conflicting interpretation of pathogenicity based on ClinVar	Unknown ESRD
			g.36342212C>T	c.349G>A	rs3814995	0.3102	AR	Het	Missense	Benign

* ESRD: End Stage Renal Disease; AR: Autosomal Recessive; Het: Heterozygous; VUS meaning: it has been reported to manifest the final explanation of manual curation during the prioritization process, and is not only expressed in online tools of pathogenicity, such as ACMG and others.