ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.2197C>T (p.Pro733Ser)

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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 RCV004061192 SCV002730693 uncertain significance not specified 2022-10-09 criteria provided, single submitter clinical testing The p.P733S variant (also known as c.2197C>T), located in coding exon 14 of the POLQ gene, results from a C to T substitution at nucleotide position 2197. The proline at codon 733 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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