ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1504G>A (p.Asp502Asn)

gnomAD frequency: 0.00004  dbSNP: rs777866589
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000463446 SCV000558747 likely benign Colorectal cancer, susceptibility to, 10 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570214 SCV000671021 likely benign Hereditary cancer-predisposing syndrome 2021-09-07 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 RCV001548282 SCV001768164 likely benign not provided 2020-10-30 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign germline variant to our knowledge; This variant is associated with the following publications: (PMID: 7704014, 27161865, 10074927, 20951805, 24816253)
Genetic Services Laboratory, University of Chicago RCV001821338 SCV002064601 uncertain significance not specified 2019-07-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000570214 SCV002534586 likely benign Hereditary cancer-predisposing syndrome 2021-05-06 criteria provided, single submitter curation
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001548282 SCV004219063 benign not provided 2022-06-29 criteria provided, single submitter clinical testing

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