ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1817T>C (p.Val606Ala) (rs376044376)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204031 SCV000261233 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-03-28 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 606 of the MSH2 protein (p.Val606Ala). The valine residue is moderately conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency) but has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). 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 is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000663175 SCV000786337 uncertain significance Lynch syndrome I 2018-04-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013294 SCV001173863 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-29 criteria provided, single submitter clinical testing Insufficient evidence

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