ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.2335C>G (p.Leu779Val)

dbSNP: rs747478766
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985959 SCV001134699 uncertain significance not provided 2018-09-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV002454233 SCV002738054 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-18 criteria provided, single submitter clinical testing The p.L779V variant (also known as c.2335C>G), located in coding exon 21 of the POLE gene, results from a C to G substitution at nucleotide position 2335. The leucine at codon 779 is replaced by valine, an amino acid with highly 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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