ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.11_12delinsC (p.Gln4fs)

dbSNP: rs1558451119
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000689564 SCV000817220 pathogenic Hereditary nonpolyposis colorectal neoplasms 2023-05-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of Lynch syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln4Profs*60) 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).
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759095 SCV000888197 pathogenic not provided 2018-08-16 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003453434 SCV004187807 pathogenic Lynch syndrome 1 2023-07-26 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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