ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.3646G>T (p.Gly1216Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004015081 SCV004829991 likely pathogenic Lynch syndrome 2023-11-16 criteria provided, single submitter clinical testing The c.3646G>T (p.Gly1216*) variant in the MSH6 gene is located on the exon 7 and is predicted to introduce a premature translation termination codon (p.Gly1216*), resulting in an absent or disrupted protein product. Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 30376427, 18269114, 28514183). The variant has been reported in an individual with colorectal cancer (PMID: 35638907). The variant is not reported in ClinVar. The variant is absent in the general population database (gnomAD). Therefore, the c.3646G>T (p.Gly1216*) variant of MSH6 has been classified as likely pathogenic.

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