ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.926C>G (p.Ser309Cys) (rs544222338)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000115446 SCV000215268 uncertain significance Hereditary cancer-predisposing syndrome 2017-11-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000115446 SCV000902781 likely benign Hereditary cancer-predisposing syndrome 2016-11-04 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000212637 SCV000592578 uncertain significance not specified 2016-07-21 criteria provided, single submitter clinical testing
GeneDx RCV000656891 SCV000149355 uncertain significance not provided 2018-08-16 criteria provided, single submitter clinical testing This variant is denoted MSH6 c.926C>G at the cDNA level, p.Ser309Cys (S309C) at the protein level, and results in the change of a Serine to a Cysteine (TCT>TGT). This variant was observed in at least one individual with advanced cancer (Mandelker 2017). MSH6 Ser309Cys was observed at an allele frequency of 0.23% (71/30,780) in individuals of South Asian ancestry in large population cohorts (Lek 2016). This variant is located at a phosphoserine site and in a nuclear localization signal (UniProt, Gassman 2011). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Based on currently available evidence, it is unclear whether MSH6 Ser309Cys is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000230021 SCV000283860 likely benign Hereditary nonpolyposis colon cancer 2017-12-18 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212637 SCV000601622 uncertain significance not specified 2016-12-24 criteria provided, single submitter clinical testing

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