Submissions for variant NM_000251.2(MSH2):c.1094C>G (p.Ala365Gly) (rs1242235025)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000689132	SCV000816772	uncertain significance	Hereditary nonpolyposis colorectal neoplasms	2018-08-10	criteria provided, single submitter	clinical testing	This sequence change replaces alanine with glycine at codon 365 of the MSH2 protein (p.Ala365Gly). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and glycine. 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 C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Color	RCV000772266	SCV000905384	uncertain significance	Hereditary cancer-predisposing syndrome	2019-06-12	criteria provided, single submitter	clinical testing

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