ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1449C>T (p.Gly483=)

gnomAD frequency: 0.00001  dbSNP: rs878854522
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233350 SCV000287519 likely benign Colorectal cancer, susceptibility to, 10 2023-11-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000569725 SCV000671190 likely benign Hereditary cancer-predisposing syndrome 2017-01-16 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.
GeneDx RCV001558773 SCV001780788 uncertain significance not provided 2023-11-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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.

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