ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1759+3A>T (rs863224630)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195986 SCV000254331 uncertain significance Lynch syndrome 2015-04-04 criteria provided, single submitter clinical testing This sequence change falls in intron 11 of the MSH2 mRNA. It does not directly change the encoded amino acid sequence of the MSH2 protein. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of nucleotide changes on mRNA splicing suggest that this intronic variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a novel intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

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