ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2233del (p.Ile745fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV004584151 SCV005062151 likely pathogenic Lynch syndrome 4 2024-06-28 criteria provided, single submitter clinical testing The variant c.2233del (p.(Ile745Tyrfs*23)) in exon 13 of the PMS2 gene is not found in the gnomAD database and it creates a frame shift starting at codon Ile745. The new reading frame ends in a STOP codon at position 23. Frameshift variants leading to a loss of function of PMS2 protein are a known mechanism of disease. ACMG criteria used for classification: PVS1, PM2_sup.

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