ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.1696G>C (p.Gly566Arg)

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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 RCV004060483 SCV002712418 uncertain significance not specified 2024-06-06 criteria provided, single submitter clinical testing The p.G566R variant (also known as c.1696G>C), located in coding exon 11 of the POLQ gene, results from a G to C substitution at nucleotide position 1696. The glycine at codon 566 is replaced by arginine, an amino acid with dissimilar 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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