ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)

dbSNP: rs63750630
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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) RCV000076775 SCV000107814 pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Multifactorial likelihood analysis posterior probability >0.99
Invitae RCV003593904 SCV004292549 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-10-10 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 330 of the MSH2 protein (p.Leu330Pro). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 12624141, 27601186, 28577310). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 91270). Advanced modeling performed at Invitae incorporating data from internal and/or published experimental studies (PMID: 33357406) indicates that this missense variant is expected to disrupt MSH2 function. For these reasons, this variant has been classified as Pathogenic.
Medical Genetics Laboratory, Umraniye Training and Research Hospital, University of Health Sciences RCV001554291 SCV001774879 pathogenic Colonic diverticula 2021-08-08 no assertion criteria provided clinical testing

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