ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.5502C>T (p.Asp1834=)

dbSNP: rs1555221903
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001770471 SCV000653371 likely benign not provided 2023-12-16 criteria provided, single submitter clinical testing
GeneDx RCV001770471 SCV001993793 uncertain significance not provided 2019-05-09 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes splice predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002350369 SCV002648651 likely benign Hereditary cancer-predisposing syndrome 2019-11-16 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.

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