ClinVar Miner

Submissions for variant NM_002691.4(POLD1):c.1149C>A (p.Thr383=)

gnomAD frequency: 0.00004  dbSNP: rs753026593
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000565603 SCV000671072 likely benign Hereditary cancer-predisposing syndrome 2015-08-30 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 RCV001704687 SCV000717705 likely benign not provided 2019-10-07 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV000645927 SCV000767682 likely benign Colorectal cancer, susceptibility to, 10 2024-01-29 criteria provided, single submitter clinical testing

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