ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.6950C>T (p.Ala2317Val)

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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 RCV004845585 SCV005484027 uncertain significance not specified 2024-08-10 criteria provided, single submitter clinical testing The p.A2317V variant (also known as c.6950C>T), located in coding exon 24 of the POLQ gene, results from a C to T substitution at nucleotide position 6950. The alanine at codon 2317 is replaced by valine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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