ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.654dup (p.Val219fs)

dbSNP: rs2136020791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003773336 SCV002291135 pathogenic not provided 2023-04-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1502397). This variant has not been reported in the literature in individuals affected with POLE-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val219Cysfs*17) in the POLE gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in POLE are known to be pathogenic (PMID: 23230001, 25948378, 30503519).
Mendelics RCV002246651 SCV002519192 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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