ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1587G>A (p.Ser529=)

gnomAD frequency: 0.00001  dbSNP: rs786201709
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000164137 SCV000214753 likely benign Hereditary cancer-predisposing syndrome 2016-09-22 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.
Invitae RCV000230403 SCV000285077 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000427627 SCV000525306 likely benign not specified 2017-08-17 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.
Color Diagnostics, LLC DBA Color Health RCV000164137 SCV000686143 likely benign Hereditary cancer-predisposing syndrome 2016-12-12 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000427627 SCV000920050 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316017 SCV004016592 likely benign Lynch syndrome 4 2023-07-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477605 SCV004218961 likely benign not provided 2022-09-22 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000427627 SCV004243283 likely benign not specified 2024-02-06 criteria provided, single submitter clinical testing

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