ClinVar Miner

Submissions for variant NM_001256849.1(POLD1):c.2052G>C (p.Gln684His) (rs144143245)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000564986 SCV000670883 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Counsyl RCV000231655 SCV000786056 uncertain significance Colorectal cancer 10 2018-02-13 criteria provided, single submitter clinical testing
GeneDx RCV000485931 SCV000568211 likely benign not specified 2018-03-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000231655 SCV000287550 likely benign Colorectal cancer 10 2018-01-10 criteria provided, single submitter clinical testing
Knight Diagnostic Laboratories,Oregon Health and Sciences University RCV000231655 SCV000493785 uncertain significance Colorectal cancer 10 2016-01-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000485931 SCV000712639 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing The p.Gln684His variant in POLD1 has not been previously reported in individuals with colorectal cancer but has been identified in 49/65572 of European chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; d bSNP rs144143245). Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Gln684His variant is uncertain.
Mendelics RCV000709587 SCV000839443 uncertain significance Familial colorectal cancer 2018-07-02 criteria provided, single submitter clinical testing
Molecular Oncology Laboratory,Hospital Clínico San Carlos RCV000231655 SCV000844938 uncertain significance Colorectal cancer 10 2018-06-01 no assertion criteria provided clinical testing
PreventionGenetics RCV000679487 SCV000806486 uncertain significance not provided 2016-11-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000485931 SCV000601900 uncertain significance not specified 2017-03-16 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000564986 SCV000805288 uncertain significance Hereditary cancer-predisposing syndrome 2018-04-27 no assertion criteria provided clinical testing

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