ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.2740A>C (p.Ser914Arg)

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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 RCV004845747 SCV005481624 uncertain significance not specified 2024-11-10 criteria provided, single submitter clinical testing The p.S914R variant (also known as c.2740A>C), located in coding exon 16 of the POLQ gene, results from an A to C substitution at nucleotide position 2740. The serine at codon 914 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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