ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.195T>C (p.Leu65=)

dbSNP: rs780080040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
University of Washington Department of Laboratory Medicine, University of Washington RCV000758632 SCV000887389 uncertain significance Lynch syndrome 2018-05-01 criteria provided, single submitter clinical testing PMS2 NM_000535.5:c.195T>C has a 14.1% 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.
Ambry Genetics RCV002422641 SCV002718865 likely benign Hereditary cancer-predisposing syndrome 2017-10-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV002422641 SCV004359706 likely benign Hereditary cancer-predisposing syndrome 2022-11-07 criteria provided, single submitter clinical testing

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