ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3398C>A (p.Thr1133Asn) (rs730881805)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000555103 SCV000624855 uncertain significance Hereditary nonpolyposis colon cancer 2017-02-07 criteria provided, single submitter clinical testing This sequence change replaces threonine with asparagine at codon 1133 of the MSH6 protein (p.Thr1133Asn). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and asparagine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an MSH6-related disease. 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 disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000572827 SCV000669960 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (deleterious) and/or completely conserved position in appropriate species,Insufficient evidence

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