ClinVar Miner

Submissions for variant NM_001255975.1(PIWIL3):c.2273C>T (p.Thr758Ile)

dbSNP: rs1459408352
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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 RCV004506267 SCV005006619 uncertain significance not specified 2023-12-27 criteria provided, single submitter clinical testing The c.2300C>T (p.T767I) alteration is located in exon 19 (coding exon 18) of the PIWIL3 gene. This alteration results from a C to T substitution at nucleotide position 2300, causing the threonine (T) at amino acid position 767 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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