ClinVar Miner

Submissions for variant NM_006231.3(POLE):c.206_211delCCGAGA

dbSNP: rs1555230325
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575727 SCV000671675 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-15 criteria provided, single submitter clinical testing The c.206_211delCCGAGA variant (also known as p.T69_E70del) is located in coding exon 3 of the POLE gene. This variant results from an in-frame CCGAGA deletion at nucleotide positions 206 to 211. This results in the in-frame deletion of a threonine and a glutamic acid at codons 69 and 70, respectively. This amino acid position is highly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001770517 SCV000834559 uncertain significance not provided 2024-07-10 criteria provided, single submitter clinical testing This variant, c.206_211del, results in the deletion of 2 amino acid(s) of the POLE protein (p.Thr69_Glu70del), 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. ClinVar contains an entry for this variant (Variation ID: 484579). 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.
GeneDx RCV001770517 SCV002003133 uncertain significance not provided 2020-07-20 criteria provided, single submitter clinical testing In-frame deletion of 2 amino acids in a non-repeat region; Not observed in large population cohorts (Lek 2016); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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