ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3080_3081del (p.Asp1026_Ser1027insTer)

dbSNP: rs752148857
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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 RCV001284047 SCV001211854 pathogenic not provided 2022-05-27 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with POLE-related conditions. This variant is present in population databases (rs752148857, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Ser1027*) 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). ClinVar contains an entry for this variant (Variation ID: 844908). For these reasons, this variant has been classified as Pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284047 SCV001469622 uncertain significance not provided 2019-10-29 criteria provided, single submitter clinical testing

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