ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1699A>T (p.Lys567Ter)

dbSNP: rs63751149
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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) RCV000076250 SCV000107269 pathogenic Lynch syndrome 2013-09-05 reviewed by expert panel research Coding sequence variation introducing premature termination codon
Invitae RCV001854316 SCV002238647 pathogenic Hereditary nonpolyposis colorectal neoplasms 2021-07-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 90753). This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (PMID: 17440950, 21642682). This sequence change creates a premature translational stop signal (p.Lys567*) 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).

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