ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.943-1G>A (rs12476364)

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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) RCV000076757 SCV000107798 likely pathogenic Lynch syndrome 2019-06-21 reviewed by expert panel curation Interrupts canonical donor splice site
Invitae RCV000532450 SCV000625485 pathogenic Hereditary nonpolyposis colon cancer 2017-11-14 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 5 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 reported in individuals affected with Lynch syndrome (PMID: 20233461, 26866578, 11151427). ClinVar contains an entry for this variant (Variation ID: 91252). In addition, other variants affecting this nucleotide (c.943-1G>C and c.943-1G>T) have been observed in individuals affected with suspected Lynch syndrome or colon cancer (PMID: 15849733, Invitae). This suggests that this nucleotide is important for normal RNA splicing. For these reasons, this variant has been classified as Pathogenic.

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