ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.321G>A (p.Arg107=) (rs756420858)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215069 SCV000275771 likely benign Hereditary cancer-predisposing syndrome 2015-05-13 criteria provided, single submitter clinical testing
Color RCV000215069 SCV000691066 likely benign Hereditary cancer-predisposing syndrome 2017-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000420804 SCV000514191 likely benign not specified 2016-09-23 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 RCV000588960 SCV000697359 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing Variant summary: The c.321G>A (p.Arg1107=) in PMS2 gene is a synonymous change that involves a non-conserved nucleotide. 5/5 programs in Alamut predict that this variant do not affect a normal splicing, however no functional studies supporting these predictions were published at the time of evaluation. The variant is present in the large control population dataset of ExAC at a frequency 0.000035 (4/113632 chrs tested), however the possibility of this variant being pseudogene derived cannot be completely ruled out. The c.321G>A has not, to our knowledge, been reported in affected individuals via published reports, but is cited as Likely Benign by reputable databases/clinical laboratories. Taken together, this variant has been classified as VUS-Possibly Benign.
Invitae RCV000472289 SCV000562206 likely benign Hereditary nonpolyposis colon cancer 2017-05-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588960 SCV000888414 likely benign not provided 2018-01-10 criteria provided, single submitter clinical testing

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