ClinVar Miner

Submissions for variant NM_001255975.1(PIWIL3):c.1395G>T (p.Leu465Phe)

dbSNP: rs1051626135
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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 RCV004179617 SCV003666495 uncertain significance not specified 2022-12-15 criteria provided, single submitter clinical testing The c.1395G>T (p.L465F) alteration is located in exon 12 (coding exon 11) of the PIWIL3 gene. This alteration results from a G to T substitution at nucleotide position 1395, causing the leucine (L) at amino acid position 465 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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