ClinVar Miner

Submissions for variant NM_001255975.1(PIWIL3):c.2507G>A (p.Gly836Asp)

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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 RCV004844760 SCV005468711 uncertain significance not specified 2024-07-17 criteria provided, single submitter clinical testing The c.2534G>A (p.G845D) alteration is located in exon 21 (coding exon 20) of the PIWIL3 gene. This alteration results from a G to A substitution at nucleotide position 2534, causing the glycine (G) at amino acid position 845 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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