ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1691C>G (p.Ser564Ter) (rs864622153)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657688 SCV000779437 pathogenic not provided 2017-12-27 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.1691C>G at the cDNA level and p.Ser564Ter (S564X) at the protein level. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), and is predicted to cause loss of normal protein function through protein truncation. This variant has been reported in at least two individuals with a personal and/or family history suspicious for Lynch syndrome (Lagerstedt-Robinson 2016). Based on currently available evidence, we consider this variant to be pathogenic.
Invitae RCV000705277 SCV000834266 pathogenic Hereditary nonpolyposis colorectal neoplasms 2018-05-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser564*) 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 been reported in individuals affected with Lynch syndrome (PMID: 27601186). 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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