ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.4507T>C (p.Phe1503Leu)

dbSNP: rs2138546633
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001765044 SCV001989612 uncertain significance not provided 2024-01-04 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 RCV002334663 SCV002636518 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-16 criteria provided, single submitter clinical testing The p.F1503L variant (also known as c.4507T>C), located in coding exon 35 of the POLE gene, results from a T to C substitution at nucleotide position 4507. The phenylalanine at codon 1503 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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