ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.2292C>T (p.Gly764=)

gnomAD frequency: 0.00004  dbSNP: rs146960286
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478379 SCV000572411 uncertain significance not provided 2021-09-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 28577310, 25790293)
Invitae RCV000556801 SCV000646545 likely benign Colorectal cancer, susceptibility to, 10 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002446941 SCV002734785 likely benign Hereditary cancer-predisposing syndrome 2018-02-16 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.

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