Table 1:

PMS2 variants: Location, Sequence Conservation, and Database Classification

Variant Alteration (gDNA)	Mutation in Protein	Allele Frequency	Sequence Conservation (Align-GVGD)	Location	Database Classification
					ClinVar	InSiGHT Class	CLIA approved lab
c.620G>A	p.Gly207Glu	.00045 (ExAC) Highest in South Asians at 0.0022	Intermediate conservation (9/14)	ATPase Domain	Conflicting: likely benign/ VUS	Not classified	VUS → Likely benign per Invitae
c.123_131delGTTAGTAGA	p.Leu42_Glu44del	None noted	Highly Conserved (L(V/I/L)E)	ATPase Domain	Conflicting: likely pathogenic/ VUS	Not in database	VUS → Likely pathogenic per GeneDx