ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1510+2T>C (rs1060502023)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461276 SCV000548282 likely pathogenic Lynch syndrome 2016-04-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 of the MSH2 gene. It is expected to disrupt mRNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MSH2-related disease. In summary, donor and acceptor splice site variants are typically truncating (PMID: 16199547), and truncating variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). However, without additional functional and/or genetic data, this variant has been classified as Likely Pathogenic.
Ambry Genetics RCV000491134 SCV000580520 pathogenic Hereditary cancer-predisposing syndrome 2013-02-01 criteria provided, single submitter clinical testing

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