ClinVar Miner

Submissions for variant NM_001255975.1(PIWIL3):c.119A>G (p.Gln40Arg)

dbSNP: rs1386949272
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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 RCV004322850 SCV003988008 uncertain significance not specified 2023-06-01 criteria provided, single submitter clinical testing The c.119A>G (p.Q40R) alteration is located in exon 3 (coding exon 2) of the PIWIL3 gene. This alteration results from a A to G substitution at nucleotide position 119, causing the glutamine (Q) at amino acid position 40 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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