ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2433C>T (p.Gly811=)

gnomAD frequency: 0.00002  dbSNP: rs1051057675
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529417 SCV000646560 likely benign Colorectal cancer, susceptibility to, 10 2023-12-06 criteria provided, single submitter clinical testing
GeneDx RCV001722500 SCV000718576 likely benign not provided 2019-02-19 criteria provided, single submitter clinical testing
Counsyl RCV000529417 SCV000786269 likely benign Colorectal cancer, susceptibility to, 10 2018-04-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002456167 SCV002737199 likely benign Hereditary cancer-predisposing syndrome 2018-07-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003900195 SCV004713765 likely benign POLD1-related condition 2022-10-07 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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