ClinVar Miner

Submissions for variant NM_001256849.1(POLD1):c.2824C>G (p.Pro942Ala) (rs1203736050)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000601570 SCV000731366 uncertain significance not specified 2017-01-12 criteria provided, single submitter clinical testing The p.Pro942Ala variant in POLD1 has not been previously reported in individuals with colorectal cancer. Data from large population studies is insufficient to a ssess the frequency of this variant. Computational prediction tools and conserva tion analysis suggest that the p.Pro942Ala variant may impact the protein, thoug h this information is not predictive enough to determine pathogenicity. In summa ry, the clinical significance of the p.Pro942Ala variant is uncertain.

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