ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala)

gnomAD frequency: 0.00001  dbSNP: rs755166232
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709260 SCV000838691 uncertain significance Familial colorectal cancer 2018-07-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002343583 SCV002620264 uncertain significance Hereditary cancer-predisposing syndrome 2022-09-24 criteria provided, single submitter clinical testing The p.E1241A variant (also known as c.3722A>C), located in coding exon 30 of the POLE gene, results from an A to C substitution at nucleotide position 3722. The glutamic acid at codon 1241 is replaced by alanine, an amino acid with dissimilar 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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