Submissions for variant NM_000251.2(MSH2):c.2446C>T (p.Gln816Ter) (rs63749917)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT)	RCV000076476	SCV000107505	pathogenic	Lynch syndrome	2013-09-05	reviewed by expert panel	research	Coding sequence variation introducing premature termination codon
Invitae	RCV001201361	SCV000548269	pathogenic	Hereditary nonpolyposis colorectal neoplasms	2019-04-05	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Gln816*) in the MSH2 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 been observed in individuals affected with Lynch syndrome (PMID: 12624141, 15996210). ClinVar contains an entry for this variant (Variation ID: 90974). Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics	RCV001015571	SCV001176418	pathogenic	Hereditary cancer-predisposing syndrome	2018-10-18	criteria provided, single submitter	clinical testing	Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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