CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein

Table 3 Variants classified as LLS without functional assay

No.	Variant	Definition of LLS^a	IHC			MSI	Segregation study	FH	PTF	Healthy control =0 (N>100)	References
			MLH1	MSH2	MSH6
6	L449P	2,3	Normal	Normal	Abnormal	H	ND	Abnormal	Abnormal	ND	[39]
7	C559Y	3	ND	ND	ND	ND	Abnormal	Abnormal	Abnormal	ND	[44]
8	P591S	2,3	Normal	Normal	Abnormal	H	ND	Abnormal	Abnormal	Abnormal	[40]
9	P623L	3	Normal	Normal	Abnormal	L	ND	Normal	Abnormal	Abnormal	[31]
10	G670R	2	Normal	Normal	Abnormal	H	ND	Normal	Normal	ND	[41]
11	R772W	2	Normal	Normal	Abnormal	H	ND	Normal	Normal	Inconclusive (0/95)	[42]
12	Y969C	2,3	Normal	Normal	Abnormal	H	Abnormal	Abnormal	Abnormal	Inconclusive^b	[43, 44]
13	G1069E	2	Normal	Normal	Abnormal	H	ND	Normal	Normal	ND	[45]
14	R1076C	3	Normal	Normal	Abnormal	ND	ND	Abnormal	Abnormal	ND	[47, 48]
15	A1236P	2,3	Normal	Normal	Abnormal	H	ND	Abnormal	NA	Abnormal	[46]

ISSN: 1423-0127