ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.338C>A (p.Ser113Ter)

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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, Mass General Brigham Personalized Medicine RCV004018331 SCV004847956 pathogenic Lynch syndrome 2015-07-30 criteria provided, single submitter clinical testing The p.Ser113X variant in PMS2 has not been previously reported in individuals with Lynch syndrome and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 113, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the PMS2 gene is an established disease mechanism in Lynch syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1211/). In summary, this variant meets our criteria to be classified as pathogenic for Lynch syndrome (http://www.partners.org/personalizedmedicine/LMM) based upon predicted impact to the protein and absence in controls.

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