ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3173-3C>G (rs1060502944)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460492 SCV000551294 uncertain significance Lynch syndrome 2016-05-20 criteria provided, single submitter clinical testing This sequence change affects a highly conserved nucleotide near the acceptor splice site in intron 4 of the MSH6 mRNA. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with colon cancer in the Leiden Open-source Variation Database (PMID: 21520333). 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 variant is a rare missense change with uncertain impact on mRNA splicing. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000503759 SCV000592624 uncertain significance not specified 2015-09-25 criteria provided, single submitter clinical testing

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