ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.2254C>G (p.Gln752Glu)

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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 RCV004244872 SCV003860698 uncertain significance not specified 2022-12-26 criteria provided, single submitter clinical testing The p.Q752E variant (also known as c.2254C>G), located in coding exon 14 of the POLQ gene, results from a C to G substitution at nucleotide position 2254. The glutamine at codon 752 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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