ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2195G>C (p.Arg732Pro) (rs749746725)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483131 SCV000572779 uncertain significance not provided 2018-07-20 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.2195G>C at the cDNA level, p.Arg732Pro (R732P) at the protein level, and results in the change of an Arginine to a Proline (CGA>CCA). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. MSH6 Arg732Pro was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the lever domain (Warren 2007, Kansikas 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether MSH6 Arg732Pro is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000571852 SCV000669928 uncertain significance Hereditary cancer-predisposing syndrome 2017-02-21 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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