ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3952A>T

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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 RCV000826178 SCV000967717 likely pathogenic Lynch syndrome 2017-12-14 criteria provided, single submitter clinical testing The p.Arg1318X variant in MSH6 has not been previously reported in individuals w ith MSH6-associated cancers and was absent from large population studies. This n onsense variant leads to a premature termination codon at position 1318. This te rmination codon occurs within the terminal 50 bases of the second to last exon a nd is more likely to escape nonsense mediated decay (NMD), resulting in a trunca ted protein. Truncating variants downstream of this variant have been reported i n individuals with Lynch syndrome. In summary, although additional studies are required to fully establish its clinical significance, the p.Arg1318X variant is likely pathogenic. ACMG/AMP Criteria applied: PVS1_Strong; PM2.

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