ClinVar Miner

Submissions for variant NM_015117.3(ZC3H3):c.2387T>C (p.Leu796Pro)

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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 RCV005297413 SCV005969317 uncertain significance not specified 2025-01-23 criteria provided, single submitter clinical testing The c.2387T>C (p.L796P) alteration is located in exon 10 (coding exon 10) of the ZC3H3 gene. This alteration results from a T to C substitution at nucleotide position 2387, causing the leucine (L) at amino acid position 796 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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