ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2219T>A (p.Leu740Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004781293 SCV005388560 pathogenic not provided 2024-05-01 criteria provided, single submitter clinical testing Observed in an individual with colon and endometrial cancer in the published literature (PMID: 32635641); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; This variant is associated with the following publications: (PMID: 29922827, 32635641)

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