ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.2276C>A (p.Ala759Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004062524 SCV002732133 uncertain significance not specified 2022-10-24 criteria provided, single submitter clinical testing The p.A759E variant (also known as c.2276C>A), located in coding exon 14 of the POLQ gene, results from a C to A substitution at nucleotide position 2276. The alanine at codon 759 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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