ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.6625A>G (p.Lys2209Glu)

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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 RCV004518301 SCV005031614 uncertain significance not specified 2023-11-30 criteria provided, single submitter clinical testing The p.K2209E variant (also known as c.6625A>G), located in coding exon 22 of the POLQ gene, results from an A to G substitution at nucleotide position 6625. The lysine at codon 2209 is replaced by glutamic acid, an amino acid with 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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