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

Table 4 Variants classified as “Unlikely to be Lynch syndrome” (ULS) showing normal MMR

NO	Variant	Definition of ULS^a	Polymorphism	Functional assay					IHC			MSI	References
				MMR activity	Interaction with MSH2	Localization	ATP hydrolysis	Mismatch recognition	MLH1	MSH2	MSH6
16	R128L	2	NA	Normal	Normal	ND	ND	ND	Abnormal	Normal	Normal	H	[31]
17	S1441	2,3	<0.01	Normal	Normal	ND	ND	ND	Normal	Normal	Normal	S	[30, 49, 50]
18	L396V	1,2	≥0.01	Normal	ND	ND	ND	ND	Normal	Normal	Normal	L/H	[32, 34]
19	K728T	2,3	NA	Normal	Normal	ND	ND	ND	Abnormal	Abnormal	Abnormal	S	[31]

Abbreviations: NA, Not available, ND, Not done; H, MSI-high; L, MSI-low; S; Microsatellite stable.
^a See Table 1.

ISSN: 1423-0127