ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.132G>A (p.Thr44=) (rs766856128)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459944 SCV000548136 uncertain significance Hereditary nonpolyposis colon cancer 2019-09-23 criteria provided, single submitter clinical testing This sequence change affects codon 44 of the MSH2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the MSH2 protein. This variant is present in population databases (rs766856128, ExAC 0.005%). This variant has not been reported in the literature in individuals with an MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 408457). 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, this variant has uncertain impact on MSH2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000584310 SCV000689977 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing
GeneDx RCV000612722 SCV000729864 likely benign not specified 2017-12-18 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759099 SCV000888204 likely benign not provided 2018-06-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000584310 SCV001171352 likely benign Hereditary cancer-predisposing syndrome 2015-12-29 criteria provided, single submitter clinical testing

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