ClinVar Miner

Submissions for variant NM_001255975.1(PIWIL3):c.2471C>T (p.Thr824Ile)

gnomAD frequency: 0.00003  dbSNP: rs139040174
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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 RCV004506269 SCV005006621 uncertain significance not specified 2021-09-16 criteria provided, single submitter clinical testing The c.2498C>T (p.T833I) alteration is located in exon 20 (coding exon 19) of the PIWIL3 gene. This alteration results from a C to T substitution at nucleotide position 2498, causing the threonine (T) at amino acid position 833 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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