ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2176T>G (p.Tyr726Asp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
St. Jude Molecular Pathology, St. Jude Children's Research Hospital RCV003230322 SCV003928047 uncertain significance Colorectal cancer, susceptibility to, 12 2023-05-16 criteria provided, single submitter clinical testing The POLE c.2176T>G (p.Tyr726Asp) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org). The in silico tool REVEL predicts a deleterious effect on protein function, but to our knowledge this prediction has not been confirmed by functional studies. To our knowledge, this variant has not been reported in the literature in individuals with POLE-related disease. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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