ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2540G>A (p.Arg847Gln)

gnomAD frequency: 0.00001  dbSNP: rs534297483
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001311837 SCV000653142 likely benign not provided 2025-01-26 criteria provided, single submitter clinical testing
GeneDx RCV001311837 SCV002525281 uncertain significance not provided 2024-05-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an individual with leiomyosarcoma (PMID: 28878254); This variant is associated with the following publications: (PMID: 24807215, 20951805, 28878254, 38201563, 35534704)
Sema4, Sema4 RCV002257831 SCV002536788 likely benign Hereditary cancer-predisposing syndrome 2020-12-09 criteria provided, single submitter curation
Ambry Genetics RCV002257831 SCV005479473 likely benign Hereditary cancer-predisposing syndrome 2024-07-08 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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