ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1800_1802TGA[3] (p.Asp601dup)

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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 RCV000826025 SCV000967514 uncertain significance not specified 2018-08-14 criteria provided, single submitter clinical testing The p.Asp601dup variant in POLE has not been previously reported in individuals with colorectal cancer or in population databases, though the ability of these s tudies to accurately detect indels may be limited. This variant is a duplication an aspartic acid (Asp) residue at position 601 and is not predicted to alter th e protein reading-frame. It is unclear if this insertion will impact the protein . In summary, the clinical significance of the p.Asp601_Glu602insAsp variant is uncertain. ACMG/AMP Criteria applied: PM2, PM4_Supporting.

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