ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)

dbSNP: rs63751018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076473 SCV000107503 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Labcorp Genetics (formerly Invitae), Labcorp RCV001388595 SCV001589649 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-07-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu811*) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Lynch syndrome (PMID: 8581513). ClinVar contains an entry for this variant (Variation ID: 90971). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002298462 SCV002598592 pathogenic Hereditary nonpolyposis colon cancer 2024-10-11 criteria provided, single submitter clinical testing Variant summary: MSH2 c.2432T>G (p.Leu811X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 251338 control chromosomes (gnomAD). c.2432T>G has been reported in the literature in individuals affected with MSH2-related conditions (examples: Miyaki_1995, Lu_1996, Domingo_2004). These data indicate that the variant is very likely associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 15342696, 8581513, 8613431, 9240418). ClinVar contains an entry for this variant (Variation ID: 90971). Based on the evidence outlined above, the variant was classified as pathogenic.
Myriad Genetics, Inc. RCV003452910 SCV004187834 pathogenic Lynch syndrome 1 2023-08-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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