ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2340GGC[1] (p.Ala782del)

dbSNP: rs1064796065
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483397 SCV000572464 uncertain significance not provided 2018-10-03 criteria provided, single submitter clinical testing This in-frame deletion of three nucleotides in POLE is denoted c.2343_2345delGGC at the cDNA level and p.Ala782del (A782del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is CGGC[delGGC]CGTG. This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. POLE Ala782del was not observed in large population cohorts (Lek 2016). The deleted residue is located in the polymerase domain (Preston 2010). In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider POLE Ala782del to be a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV000483397 SCV000772717 uncertain significance not provided 2024-11-21 criteria provided, single submitter clinical testing This variant, c.2343_2345del, results in the deletion of 1 amino acid(s) of the POLE protein (p.Ala782del), but otherwise preserves the integrity of the reading frame. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000650868 SCV000785644 uncertain significance Colorectal cancer, susceptibility to, 12 2017-10-17 criteria provided, single submitter clinical testing

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