ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1398C>T (p.Gly466=) (rs752666485)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000218235 SCV000275288 likely benign Hereditary cancer-predisposing syndrome 2015-05-04 criteria provided, single submitter clinical testing
Color RCV000218235 SCV000686123 likely benign Hereditary cancer-predisposing syndrome 2017-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000612830 SCV000721615 likely benign not specified 2017-02-06 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.
Invitae RCV000229621 SCV000285068 likely benign Hereditary nonpolyposis colon cancer 2017-11-11 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine,University of Washington RCV000758630 SCV000887387 benign Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing PMS2 NM_000535.5:c.1398C>T has a 0.9% probability of pathogenicity based on combining prior probability from public data with a likelihood ratio of 0.16 to 1, generated from evidence of seeing this as a somatic mutation in a tumor with loss of heterozygosity at the PMS2 locus. See Shirts et al 2018, PMID 29887214.

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