ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1674C>T (p.Thr558=) (rs876658134)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216348 SCV000272966 likely benign Hereditary cancer-predisposing syndrome 2014-11-06 criteria provided, single submitter clinical testing
Color RCV000216348 SCV000686151 likely benign Hereditary cancer-predisposing syndrome 2015-07-17 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000586438 SCV000697306 uncertain significance not provided 2017-06-26 criteria provided, single submitter clinical testing Variant summary: The PMS2 c.1674C>T (p.Thr558Thr) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change that 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may alter ESE binding sites. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 120844 control chromosomes. In addition, multiple clinical diagnostic laboratories classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as a "Variant of Uncertain Significance - Possibly Benign. "
Invitae RCV000476721 SCV000562218 likely benign Hereditary nonpolyposis colon cancer 2017-05-01 criteria provided, single submitter clinical testing

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