ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.2825C>G (p.Thr942Arg)

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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 RCV004518104 SCV005031729 uncertain significance not specified 2023-12-14 criteria provided, single submitter clinical testing The p.T942R variant (also known as c.2825C>G), located in coding exon 16 of the POLQ gene, results from a C to G substitution at nucleotide position 2825. The threonine at codon 942 is replaced by arginine, 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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