ClinVar Miner

Submissions for variant NM_001255975.1(PIWIL3):c.1666A>G (p.Ile556Val)

dbSNP: rs772325698
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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 RCV004328938 SCV003989284 uncertain significance not specified 2023-06-02 criteria provided, single submitter clinical testing The c.1666A>G (p.I556V) alteration is located in exon 14 (coding exon 13) of the PIWIL3 gene. This alteration results from a A to G substitution at nucleotide position 1666, causing the isoleucine (I) at amino acid position 556 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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