ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.24C>G

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000825599 SCV000966942 likely pathogenic Lynch syndrome 2018-06-11 criteria provided, single submitter clinical testing The p.Tyr8X variant in MSH6 has not been previously reported in individuals with MSH6-associated cancers or in large population studies. This nonsense variant l eads to a premature termination codon at position 8, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the MSH6 gene is an established disease mechanism in individuals with Lynch syndrome. In summ ary, although additional studies are required to fully establish its clinical si gnificance, the p.Tyr8X variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1; PM2.

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