ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1544T>C (p.Ile515Thr)

dbSNP: rs2135993840
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001763237 SCV001990610 uncertain significance not provided 2019-03-19 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); 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 RCV002405298 SCV002707383 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-11 criteria provided, single submitter clinical testing The p.I515T variant (also known as c.1544T>C), located in coding exon 15 of the POLE gene, results from a T to C substitution at nucleotide position 1544. The isoleucine at codon 515 is replaced by threonine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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