ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2538A>G (p.Gly846=) (rs863224368)

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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 RCV000218845 SCV000275812 likely benign Hereditary cancer-predisposing syndrome 2015-09-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Integrated Genetics/Laboratory Corporation of America RCV000587999 SCV000697353 uncertain significance not provided 2016-10-06 criteria provided, single submitter clinical testing Variant summary: The PMS2 c.2538A>G (p.Gly846Gly) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant does not affect any ESE site. However, these predictions have yet to be confirmed by functional studies. This variant is absent in 45662 control chromosomes. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000195619 SCV000253298 likely benign Lynch syndrome 2015-10-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587999 SCV000888411 likely benign not provided 2018-08-16 criteria provided, single submitter clinical testing

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