ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.60G>C (p.Arg20=)

dbSNP: rs1554306548
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565859 SCV000674237 likely benign Hereditary cancer-predisposing syndrome 2017-05-10 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.
Invitae RCV001463104 SCV001667037 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-12-28 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000565859 SCV004359718 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-06 criteria provided, single submitter clinical testing This variant is located in the PMS2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PMS2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004001125 SCV004822829 uncertain significance Lynch syndrome 2023-04-03 criteria provided, single submitter clinical testing This variant is located in the PMS2 protein. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with PMS2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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