ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2276-113_2445+1596del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076850 SCV000108340 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Large deletion
Department of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center RCV002305444 SCV002600097 pathogenic Lynch syndrome 1 2022-11-08 criteria provided, single submitter clinical testing This sequence change is frameshift variant introducing Premature Termination Codon. This variant has been detected in patients who developed MSI-H glioblastoma at age 10 or younger, along with another variant, PMS2(NM_000535.7): c.241G>T (p.Glu81*, phase unknown). The patient is considered constitutional mismatch repair deficiency (CMMRD).

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