ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3526A>T (p.Arg1176Ter) (rs786203968)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204275 SCV000260608 pathogenic Lynch syndrome 2015-09-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1176 (p.Arg1176*). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000564868 SCV000676131 pathogenic Hereditary cancer-predisposing syndrome 2016-10-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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