ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1794dup (p.Gly599fs) (rs587780670)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491109 SCV000580196 pathogenic Hereditary cancer-predisposing syndrome 2012-11-02 criteria provided, single submitter clinical testing
Invitae RCV000696635 SCV000825203 pathogenic Hereditary nonpolyposis colon cancer 2018-09-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly599Argfs*8) 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 an individual affected with breast and ovarian cancers (PMID: 26270727). This variant has also been reported as c.1789_1790insA. ClinVar contains an entry for this variant (Variation ID: 428341). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Invitae RCV000122953 SCV000166213 pathogenic Lynch syndrome 2014-06-11 no assertion criteria provided clinical testing The interpretation for this sequence variant was made by Invitae based on the ACMG guidelines. A more detailed explanation of the interpretation for this specific variant is forthcoming. This ClinVar entry will be updated at that time.

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