ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1221del (p.Thr408fs) (rs587776715)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076802 SCV000108284 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation resulting in a stop codon
Invitae RCV000076802 SCV000552077 pathogenic Lynch syndrome 2016-10-12 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 11 of the PMS2 mRNA (c.1221delG), causing a frameshift at codon 408. This creates a premature translational stop signal (p.Thr408Leufs*40) and is expected to result in an absent or disrupted protein product. Loss-of-function variants in PMS2 are known to be pathogenic. This particular variant has been reported in the literature in an individual affected with Turcot's syndrome (PMID: 10763829) For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000009816 SCV000030037 pathogenic Turcot syndrome 2000-03-23 no assertion criteria provided literature only

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