ClinVar Miner

Submissions for variant NM_001255975.1(PIWIL3):c.235C>T (p.Pro79Ser)

dbSNP: rs775813379
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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 RCV004106751 SCV003576081 uncertain significance not specified 2021-09-01 criteria provided, single submitter clinical testing The c.235C>T (p.P79S) alteration is located in exon 4 (coding exon 3) of the PIWIL3 gene. This alteration results from a C to T substitution at nucleotide position 235, causing the proline (P) at amino acid position 79 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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