ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.6031A>T (p.Ser2011Cys)

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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 RCV004360869 SCV004098283 uncertain significance not specified 2023-07-29 criteria provided, single submitter clinical testing The p.S2011C variant (also known as c.6031A>T), located in coding exon 19 of the POLQ gene, results from an A to T substitution at nucleotide position 6031. The serine at codon 2011 is replaced by cysteine, an amino acid with dissimilar 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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