ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2085C>T (p.Ile695=) (rs757157176)

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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 RCV000576048 SCV000663471 likely benign Hereditary cancer-predisposing syndrome 2016-02-23 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign,In silico models in agreement (benign)
Integrated Genetics/Laboratory Corporation of America RCV000780622 SCV000918045 uncertain significance not specified 2018-10-29 criteria provided, single submitter clinical testing Variant summary: PMS2 c.2085C>T results in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 8e-06 in 249496 control chromosomes (gnomAD). 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.2085C>T in individuals affected with Lynch Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Both laboratories classified the variant as likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Invitae RCV000195796 SCV000253295 likely benign Hereditary nonpolyposis colon cancer 2017-05-09 criteria provided, single submitter clinical testing

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