ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.2654T>C (p.Met885Thr)

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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 RCV004332331 SCV004000605 uncertain significance not specified 2023-03-22 criteria provided, single submitter clinical testing The p.M885T variant (also known as c.2654T>C), located in coding exon 16 of the POLQ gene, results from a T to C substitution at nucleotide position 2654. The methionine at codon 885 is replaced by threonine, an amino acid with 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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