Submissions for variant NM_000179.2(MSH6):c.2010del (p.Gly670_Leu671insTer) (rs1060502918)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000462642	SCV000551174	pathogenic	Hereditary nonpolyposis colon cancer	2018-11-13	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Leu671*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 410470). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV000490988	SCV000580153	pathogenic	Hereditary cancer-predisposing syndrome	2016-10-19	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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