ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5454G>A (p.Val1818=)

gnomAD frequency: 0.00001  dbSNP: rs1046972573
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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 RCV001558497 SCV000556356 likely benign not provided 2024-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565476 SCV000671527 likely benign Hereditary cancer-predisposing syndrome 2015-12-21 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.
GeneDx RCV001558497 SCV001780454 uncertain significance not provided 2023-07-25 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on splicing
Sema4, Sema4 RCV000565476 SCV002536888 likely benign Hereditary cancer-predisposing syndrome 2021-04-10 criteria provided, single submitter curation

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