ClinVar Miner

Submissions for variant NM_000535.6(PMS2):c.2276-?_2445+?del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204261 SCV000260633 pathogenic Lynch syndrome 2016-01-12 criteria provided, single submitter clinical testing This sequence change is a gross deletion of the genomic region encompassing exon 14 of the PMS2 gene. This creates a premature translational stop signal and disrupted PMS2 protein, removing the C-terminal portion of the MLH1 interaction domain (PMID: 10037723). Truncating variants in PMS2 are known to be pathogenic. Deletions of exon 14 have been reported in the literature in individuals with Lynch syndrome tumors (PMID: 23837913, 23012243). For these reasons, this variant has been classified as Pathogenic.

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