ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.2745G>C (p.Glu915Asp)

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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 RCV004064092 SCV002749433 uncertain significance not specified 2024-02-16 criteria provided, single submitter clinical testing The p.E915D variant (also known as c.2745G>C), located in coding exon 16 of the POLQ gene, results from a G to C substitution at nucleotide position 2745. The glutamic acid at codon 915 is replaced by aspartic acid, 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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