ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.1277-1G>T

dbSNP: rs267607948
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001235341 SCV001408022 pathogenic Hereditary nonpolyposis colorectal neoplasms 2020-03-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). Disruption of this splice site has been observed in several individuals and families affected with Lynch syndrome (PMID: 17054581, 20587412, 18389388, 11839723). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 7 of the MSH2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Myriad Genetics, Inc. RCV003142200 SCV003806616 likely pathogenic Lynch syndrome 1 2023-01-11 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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