ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.4051_4055dup (p.Lys1352fs) (rs1553334033)

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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 RCV000604180 SCV000731378 uncertain significance not specified 2017-02-20 criteria provided, single submitter clinical testing The p.Lys1352fs variant in MSH6 has not been previously reported in individuals with Lynch syndrome or in large population studies, though the ability of these studies to accurately detect indels may be limited. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 1352 and leads to a premature termination codon 5 amino acids downstre am. This termination codon occurs within the terminal 50 bases of the last exon and is more likely to escape nonsense mediated decay (NMD) and result in a trunc ated protein that is 3 amino acids shorter. In summary, the clinical significanc e of the p.Lys1352fs variant is uncertain.

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