ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3670G>T (p.Ala1224Ser)

gnomAD frequency: 0.00011  dbSNP: rs369338222
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257667 SCV002536818 likely benign Hereditary cancer-predisposing syndrome 2020-12-15 criteria provided, single submitter curation
Ambry Genetics RCV002257667 SCV005481515 likely benign Hereditary cancer-predisposing syndrome 2024-10-17 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.
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000415724 SCV000493788 uncertain significance Colorectal cancer, susceptibility to, 12 2015-12-04 no assertion criteria provided clinical testing

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