ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3711G>C (p.Glu1237Asp) (rs754289472)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168236 SCV000218905 uncertain significance Lynch syndrome 2014-11-26 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 1237 of the MSH6 protein (p.Glu1237Asp). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this sequence change is likely to be tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV001020953 SCV001182502 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-28 criteria provided, single submitter clinical testing Insufficient evidence

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