ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2792T>C (p.Phe931Ser)

gnomAD frequency: 0.00002  dbSNP: rs376546593
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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 RCV000481011 SCV000289310 likely benign not provided 2024-11-18 criteria provided, single submitter clinical testing
GeneDx RCV000481011 SCV000569681 uncertain significance not provided 2024-11-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with advanced cancer (PMID: 28873162); This variant is associated with the following publications: (PMID: 28873162, 20951805)
Sema4, Sema4 RCV002258850 SCV002536792 likely benign Hereditary cancer-predisposing syndrome 2020-12-31 criteria provided, single submitter curation

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