ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.6192C>T (p.Phe2064=)

dbSNP: rs1555220905
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001526845 SCV000772807 likely benign not provided 2024-04-08 criteria provided, single submitter clinical testing
GeneDx RCV001526845 SCV001737550 uncertain significance not provided 2020-01-20 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016) In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002358882 SCV002656874 likely benign Hereditary cancer-predisposing syndrome 2018-03-29 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.

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