Table 2.

Case 2 Variant Report: VUS

Gene	Associated Disease(s)	Inheritance	Variant	Zygosity	Classification
COL4A4	COL4A4-related Alport syndrome	AD and AR	c.816G>A (p. Lys272=)	Heterozygous	Unknown significance

Provided Interpretation: This synonymous variant is located near an intron-exon boundary located in exon 13 and is predicted by multiple in silico splice predictor algorithms to reduce the splice site activity significantly. This variant has not been reported as associated with a clinical condition in the Human Gene Mutation Database (HGMD) and is absent from the Broad Institute gnomAD dataset.

VUS, variant of uncertain significance; AD, autosomal dominant; AR, autosomal recessive.