ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.999dup (p.Val334fs)

dbSNP: rs2043045437
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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 RCV003656244 SCV001209398 pathogenic not provided 2023-07-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val334Cysfs*4) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 843012).
Mendelics RCV002249649 SCV002519189 uncertain significance not specified 2022-05-04 criteria provided, single submitter clinical testing

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