ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.6623del (p.Gln2208fs) (rs1555301070)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585603 SCV000692765 likely pathogenic not provided 2017-08-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000611235 SCV000731465 uncertain significance not specified 2017-04-21 criteria provided, single submitter clinical testing The p.Gln2208fs variant in POLE has not been previously reported in individuals with colorectal cancer and was absent from large population studies. This varian t is predicted to cause a frameshift, which alters the protein?s amino acid sequ ence beginning at position 2208 and leads to a premature termination codon 4 ami no acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Although this variant is expected to impact the protein, the PO LE gene has not yet been widely studied in patients (to date, virtually all vari ants reported in patients with colorectal cancer represent missense changes). In summary, the clinical significance of the p.Gln2208fs variant is uncertain.
Ambry Genetics RCV001025467 SCV001187662 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-04 criteria provided, single submitter clinical testing Insufficient evidence

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