Submissions for variant NM_000179.2(MSH6):c.3979A>T (p.Asn1327Tyr) (rs756216566)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000473620	SCV000551227	uncertain significance	Hereditary nonpolyposis colon cancer	2018-08-01	criteria provided, single submitter	clinical testing	This sequence change replaces asparagine with tyrosine at codon 1327 of the MSH6 protein (p.Asn1327Tyr). The asparagine residue is weakly conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 410496). 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"). In summary, this variant has uncertain impact on MSH6 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV000571258	SCV000669948	uncertain significance	Hereditary cancer-predisposing syndrome	2016-12-28	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient evidence

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