ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3994T>A (p.Leu1332Ile) (rs786204160)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000168161 SCV000218822 uncertain significance Lynch syndrome 2014-11-08 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 1332 of the MSH6 protein (p.Leu1332Ile). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and isoleucine. 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. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000562088 SCV000662568 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)

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