ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1447G>C (p.Val483Leu) (rs786204084)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000167980 SCV000218628 uncertain significance Lynch syndrome 2014-10-02 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 483 of the MSH6 protein (p.Val483Leu). The valine residue is highly conserved and there is a small physicochemical difference between valine and leucine. This sequence change has not been published in the literature and is not present in population databases. 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"; MutationTaster: "disease-causing"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000579821 SCV000685193 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-23 criteria provided, single submitter clinical testing

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