ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.6979C>G (p.Leu2327Val)

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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 RCV004845731 SCV005481607 uncertain significance not specified 2024-10-31 criteria provided, single submitter clinical testing The p.L2327V variant (also known as c.6979C>G), located in coding exon 25 of the POLQ gene, results from a C to G substitution at nucleotide position 6979. The leucine at codon 2327 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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