ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)

dbSNP: rs63750291
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076509 SCV000107538 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Ambry Genetics RCV000491532 SCV000580635 pathogenic Hereditary cancer-predisposing syndrome 2012-08-30 criteria provided, single submitter clinical testing
Mendelics RCV000076509 SCV000837857 pathogenic Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV001386002 SCV001586073 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-11-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln861*) 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 clinical features of Lynch syndrome (PMID: 10480359). ClinVar contains an entry for this variant (Variation ID: 91007). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003452921 SCV004188004 pathogenic Lynch syndrome 1 2023-08-09 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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