ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.6749A>C (p.Gln2250Pro)

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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 RCV004310655 SCV003975310 uncertain significance not specified 2023-04-07 criteria provided, single submitter clinical testing The c.6749A>C (p.Q2250P) alteration is located in exon 23 (coding exon 23) of the POLQ gene. This alteration results from a A to C substitution at nucleotide position 6749, causing the glutamine (Q) at amino acid position 2250 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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