Submissions for variant NM_000251.2(MSH2):c.1653T>A (p.Phe551Leu) (rs876660635)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000221165	SCV000278226	uncertain significance	Hereditary cancer-predisposing syndrome	2016-11-17	criteria provided, single submitter	clinical testing	Lines of evidence used in support of classification: Insufficient evidence
Invitae	RCV000706886	SCV000835960	uncertain significance	Hereditary nonpolyposis colon cancer	2018-05-01	criteria provided, single submitter	clinical testing	This sequence change replaces phenylalanine with leucine at codon 551 of the MSH2 protein (p.Phe551Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine 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. ClinVar contains an entry for this variant (Variation ID: 233779). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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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