ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.6154C>T (p.Leu2052Phe)

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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 RCV004360819 SCV004097873 uncertain significance not specified 2023-06-18 criteria provided, single submitter clinical testing The p.L2052F variant (also known as c.6154C>T), located in coding exon 19 of the POLQ gene, results from a C to T substitution at nucleotide position 6154. The leucine at codon 2052 is replaced by phenylalanine, 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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