ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.6826G>A (p.Gly2276Ser)

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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 RCV004664525 SCV005149586 uncertain significance not specified 2024-04-24 criteria provided, single submitter clinical testing The p.G2276S variant (also known as c.6826G>A), located in coding exon 23 of the POLQ gene, results from a G to A substitution at nucleotide position 6826. The glycine at codon 2276 is replaced by serine, 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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