ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1094G>C (p.Trp365Ser) (rs587780558)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164286 SCV000214913 uncertain significance Hereditary cancer-predisposing syndrome 2014-05-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000119239 SCV000153986 uncertain significance Lynch syndrome 2014-06-11 no assertion criteria provided clinical testing This sequence change has not been reported in affected patients, and has not been reported as a common polymorphism in the population. Indirect and predictive evidence return conflicting suggestions regarding the impact of this sequence change on protein function. This substitution affects a moderately conserved amino acid. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, MutationTaster, AlignGVGD) return conflicting predictions.

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