ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1854A>G (p.Pro618=) (rs786203744)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167180 SCV000218016 likely benign Hereditary cancer-predisposing syndrome 2014-12-10 criteria provided, single submitter clinical testing
Color RCV000167180 SCV000690023 likely benign Hereditary cancer-predisposing syndrome 2015-07-24 criteria provided, single submitter clinical testing
Counsyl RCV000662377 SCV000784773 likely benign Lynch syndrome I 2017-12-22 criteria provided, single submitter clinical testing
GeneDx RCV000601438 SCV000728994 likely benign not specified 2017-02-21 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 RCV000195465 SCV000254394 uncertain significance Hereditary nonpolyposis colon cancer 2018-09-06 criteria provided, single submitter clinical testing This sequence change affects codon 618 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 not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with an unspecified cancer (PMID: 28873162). ClinVar contains an entry for this variant (Variation ID: 187451). 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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