ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.795T>C (p.Asn265=)

gnomAD frequency: 0.00001  dbSNP: rs766667186
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214910 SCV000273936 likely benign Hereditary cancer-predisposing syndrome 2015-02-10 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.
GeneDx RCV000441268 SCV000524191 likely benign not specified 2017-01-04 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 RCV000214910 SCV000686240 likely benign Hereditary cancer-predisposing syndrome 2017-03-16 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759927 SCV000889640 likely benign not provided 2021-07-20 criteria provided, single submitter clinical testing
Invitae RCV001088373 SCV001014900 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000759927 SCV001155034 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing PMS2: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000441268 SCV002600319 likely benign not specified 2022-10-06 criteria provided, single submitter clinical testing

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