ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.5215C>A (p.Pro1739Thr)

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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 RCV004518240 SCV005031600 uncertain significance not specified 2023-10-08 criteria provided, single submitter clinical testing The p.P1739T variant (also known as c.5215C>A), located in coding exon 16 of the POLQ gene, results from a C to A substitution at nucleotide position 5215. The proline at codon 1739 is replaced by threonine, 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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