ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.862G>C (p.Ala288Pro)

dbSNP: rs1593079445
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018102 SCV001179289 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-08 criteria provided, single submitter clinical testing The p.A288P variant (also known as c.862G>C), located in coding exon 9 of the POLE gene, results from a G to C substitution at nucleotide position 862. The alanine at codon 288 is replaced by proline, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003321775 SCV004027373 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing

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