ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.267C>T (p.Asp89=) (rs762818044)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431908 SCV000513675 likely benign not specified 2015-10-26 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.
Integrated Genetics/Laboratory Corporation of America RCV000431908 SCV000919731 uncertain significance not specified 2018-02-26 criteria provided, single submitter clinical testing Variant summary: MSH6 c.267C>T alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. one predicts strengthening of a cryptic splicing acceptor site. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 246242 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.267C>T in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000630269 SCV000751225 likely benign Hereditary nonpolyposis colon cancer 2017-10-13 criteria provided, single submitter clinical testing

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