Submissions for variant NM_000251.2(MSH2):c.1817T>A (p.Val606Asp) (rs376044376)

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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	RCV000129574	SCV000184356	uncertain significance	Hereditary cancer-predisposing syndrome	2014-01-29	criteria provided, single submitter	clinical testing	Insufficient evidence
Invitae	RCV000473039	SCV000548198	uncertain significance	Hereditary nonpolyposis colon cancer	2018-11-15	criteria provided, single submitter	clinical testing	This sequence change replaces valine with aspartic acid at codon 606 of the MSH2 protein (p.Val606Asp). The valine residue is moderately conserved and there is a large physicochemical difference between valine and aspartic acid. This variant is present in population databases (rs376044376, ExAC 0.01%). This variant has not been reported in the literature in individuals with MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 141180). 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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