ClinVar Miner

Submissions for variant NM_001255975.1(PIWIL3):c.1826A>G (p.Gln609Arg)

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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 RCV005391639 SCV006045271 uncertain significance not specified 2025-02-24 criteria provided, single submitter clinical testing The c.1853A>G (p.Q618R) alteration is located in exon 15 (coding exon 14) of the PIWIL3 gene. This alteration results from a A to G substitution at nucleotide position 1853, causing the glutamine (Q) at amino acid position 618 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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