ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.366+1G>T (rs267607924)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) RCV000076573 SCV000107605 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759832 SCV000889436 pathogenic not provided 2017-10-16 criteria provided, single submitter clinical testing
Invitae RCV001059850 SCV001224500 pathogenic Hereditary nonpolyposis colon cancer 2019-12-03 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the MSH2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of Lynch Syndrome (PMID: 16395668). Additionally, disruption of this splice site has been observed to segregate with disease in related individuals (Invitae). ClinVar contains an entry for this variant (Variation ID: 91071). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 16395668). 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). For these reasons, this variant has been classified as Pathogenic.

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