Submissions for variant NM_000251.2(MSH2):c.1217G>T (p.Arg406Leu) (rs146567853)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color	RCV000580175	SCV000684916	uncertain significance	Hereditary cancer-predisposing syndrome	2018-08-28	criteria provided, single submitter	clinical testing
Invitae	RCV000696098	SCV000824645	uncertain significance	Hereditary nonpolyposis colon cancer	2018-03-07	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with leucine at codon 406 of the MSH2 protein (p.Arg406Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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