ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1731C>T (p.Gly577=)

gnomAD frequency: 0.00010  dbSNP: rs376473853
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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 RCV001086800 SCV000558725 likely benign Colorectal cancer, susceptibility to, 10 2025-01-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000573870 SCV000670999 likely benign Hereditary cancer-predisposing syndrome 2015-08-07 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 RCV000470263 SCV000721067 likely benign not provided 2020-11-04 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 26000489)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000470263 SCV001134631 benign not provided 2018-11-13 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268102 SCV002551932 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing

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