ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.1474G>A (p.Val492Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004774953 SCV005385586 uncertain significance not provided 2024-01-29 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 RCV004943326 SCV005479005 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-05 criteria provided, single submitter clinical testing The p.V492M variant (also known as c.1474G>A) is located in coding exon 15 of the POLE gene. The valine at codon 492 is replaced by methionine, an amino acid with highly similar properties. This change occurs in the first base pair of coding exon 15. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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