ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.6841G>A (p.Gly2281Ser)

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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 RCV004243297 SCV003858095 uncertain significance not specified 2023-01-11 criteria provided, single submitter clinical testing The p.G2281S variant (also known as c.6841G>A), located in coding exon 23 of the POLQ gene, results from a G to A substitution at nucleotide position 6841. The glycine at codon 2281 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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