ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.1606C>G (p.Leu536Val)

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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 RCV004057446 SCV002709199 uncertain significance not specified 2024-06-08 criteria provided, single submitter clinical testing The p.L536V variant (also known as c.1606C>G), located in coding exon 10 of the POLQ gene, results from a C to G substitution at nucleotide position 1606. The leucine at codon 536 is replaced by valine, an amino acid with highly 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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