ClinVar Miner

Submissions for variant NM_001256849.1(POLD1):c.2154+2T>C (rs1555792026)

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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 RCV000607672 SCV000712646 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing The c.2154+2T>C variant in POLD1 has not been previously reported in individuals with colorectal cancer or in large population studies. This variant occurs in t he invariant region (+/- 1,2) of the splice consensus sequence and is predicted to cause altered splicing leading to an abnormal or absent protein. Although thi s variant is expected severely impact the protein, the POLD1 gene has not yet be en widely studied in patients (to date, virtually all variants reported in patie nts with CRC represent missense changes). In summary, the clinical significance of the c.2154+2T>C variant is uncertain.

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