ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.348A>C (p.Ala116=)

dbSNP: rs763057312
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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 RCV000163915 SCV000214510 likely benign Hereditary cancer-predisposing syndrome 2015-08-28 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.
GeneDx RCV000426178 SCV000519143 likely benign not specified 2016-07-29 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000464978 SCV000562208 likely benign Hereditary nonpolyposis colorectal neoplasms 2025-01-29 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000163915 SCV000686193 likely benign Hereditary cancer-predisposing syndrome 2015-11-19 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000426178 SCV000697360 likely benign not specified 2019-08-29 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000163915 SCV002530327 likely benign Hereditary cancer-predisposing syndrome 2021-04-19 criteria provided, single submitter curation
All of Us Research Program, National Institutes of Health RCV003995295 SCV004842121 likely benign Lynch syndrome 2023-12-01 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV005235064 SCV005881045 benign Lynch syndrome 4 2025-02-01 criteria provided, single submitter clinical testing

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