ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.448C>T (p.Pro150Ser) (rs587782406)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131442 SCV000186426 uncertain significance Hereditary cancer-predisposing syndrome 2016-09-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000198664 SCV000254327 uncertain significance Lynch syndrome 2015-05-19 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 150 of the MSH6 protein (p.Pro150Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant has not been published in the literature and is not present in population databases. Clinvar contains an entry for this variant (RCV000131442). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507959 SCV000601606 uncertain significance not specified 2017-02-03 criteria provided, single submitter clinical testing
Color RCV000131442 SCV000685491 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-02 criteria provided, single submitter clinical testing

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