ClinVar Miner

Submissions for variant NM_006231.4(POLE):c.41G>A (p.Gly14Asp)

gnomAD frequency: 0.00001  dbSNP: rs1052196814
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003656603 SCV001396774 uncertain significance not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 14 of the POLE protein (p.Gly14Asp). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with POLE-related conditions. ClinVar contains an entry for this variant (Variation ID: 952454). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002327533 SCV002630650 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-20 criteria provided, single submitter clinical testing The p.G14D variant (also known as c.41G>A), located in coding exon 1 of the POLE gene, results from a G to A substitution at nucleotide position 41. The glycine at codon 14 is replaced by aspartic acid, an amino acid with 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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