ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3279A>T (p.Gly1093=) (rs876658155)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215557 SCV000273020 likely benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000840716 SCV000982653 likely benign not provided 2018-03-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001034730 SCV001198023 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-12-01 criteria provided, single submitter clinical testing This sequence change affects codon 1093 of the MSH6 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MSH6 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 229708). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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