ClinVar Miner

Submissions for variant NM_199420.4(POLQ):c.4699G>A (p.Val1567Ile)

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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 RCV004130428 SCV003603418 uncertain significance not specified 2022-01-27 criteria provided, single submitter clinical testing The c.4699G>A (p.V1567I) alteration is located in exon 16 (coding exon 16) of the POLQ gene. This alteration results from a G to A substitution at nucleotide position 4699, causing the valine (V) at amino acid position 1567 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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