ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4549A>G (p.Thr1517Ala)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003441638 SCV004169106 uncertain significance not provided 2023-10-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV004943027 SCV005478837 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-18 criteria provided, single submitter clinical testing The p.T1517A variant (also known as c.4549A>G), located in coding exon 35 of the POLE gene, results from an A to G substitution at nucleotide position 4549. The threonine at codon 1517 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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