ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.1638G>A (p.Lys546=) (rs372350768)

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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 RCV000220110 SCV000276505 likely benign Hereditary cancer-predisposing syndrome 2016-05-06 criteria provided, single submitter clinical testing Synonymous alterations with insufficient evidence to classify as benign
Invitae RCV001087052 SCV000559191 likely benign Hereditary nonpolyposis colorectal neoplasms 2019-12-31 criteria provided, single submitter clinical testing
GeneDx RCV000481824 SCV000567111 uncertain significance not provided 2018-06-03 criteria provided, single submitter clinical testing This variant is denoted MSH2 c.1638G>A at the DNA level. It is silent at the coding level, preserving a Lysine at codon 546. In-silico analysis, which includes splice predictors and evolutionary conservation, are uninformative in their assessment as to whether or not the variant is damaging. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. MSH2 c.1638G>A was not observed at a significant allele frequency in large population cohorts (Lek 2016). Based on currently available information, it is unclear whether MSH2 c.1638G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Color RCV000220110 SCV000908310 likely benign Hereditary cancer-predisposing syndrome 2017-10-12 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000481824 SCV001134342 likely benign not provided 2019-03-21 criteria provided, single submitter clinical testing

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