ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.220G>T (p.Gly74Ter) (rs1553408388)

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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 RCV000569470 SCV000664864 pathogenic Hereditary cancer-predisposing syndrome 2017-06-01 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)
Invitae RCV000695473 SCV000823975 pathogenic Hereditary nonpolyposis colon cancer 2018-02-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly74*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. While this variant is not present in population databases, the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported in individuals affected with endometrial cancer or suspected Lynch syndrome (PMID: 16885385, 17909073, 20028993, 25980754). ClinVar contains an entry for this variant (Variation ID: 480915). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.

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