ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1806C>G (p.Ala602=)

gnomAD frequency: 0.00004  dbSNP: rs376046767
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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 RCV000223290 SCV000278498 likely benign Hereditary cancer-predisposing syndrome 2015-09-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000227868 SCV000285090 likely benign Hereditary nonpolyposis colorectal neoplasms 2024-01-19 criteria provided, single submitter clinical testing
GeneDx RCV000434811 SCV000514207 benign not specified 2015-03-10 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 RCV000223290 SCV000686164 likely benign Hereditary cancer-predisposing syndrome 2016-02-10 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000434811 SCV000697312 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284202 SCV001469857 likely benign not provided 2019-09-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000223290 SCV002530228 likely benign Hereditary cancer-predisposing syndrome 2022-02-10 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003998592 SCV004844129 likely benign Lynch syndrome 2023-10-23 criteria provided, single submitter clinical testing

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