ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1387G>T (p.Glu463Ter) (rs864622435)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206852 SCV000260635 pathogenic Hereditary nonpolyposis colon cancer 2018-09-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 463 (p.Glu463*). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in MSH6 are known to be pathogenic (PMID: 24362816, 18269114). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000491980 SCV000580178 pathogenic Hereditary cancer-predisposing syndrome 2016-08-23 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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