ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1781C>T (p.Thr594Ile)

dbSNP: rs574033788
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000461480 SCV000556325 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000461480 SCV001134685 benign not provided 2019-07-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002402319 SCV002710356 benign Hereditary cancer-predisposing syndrome 2024-02-27 criteria provided, single submitter clinical testing This alteration is classified as 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 RCV000461480 SCV003929660 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 20951805, 32682410)
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001085009 SCV004017074 likely benign Colorectal cancer, susceptibility to, 12 2023-07-07 criteria provided, single submitter clinical testing

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