ClinVar Miner

Submissions for variant NM_015117.3(ZC3H3):c.712C>T (p.Arg238Cys)

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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 RCV004885087 SCV005536643 uncertain significance not specified 2024-07-14 criteria provided, single submitter clinical testing The c.712C>T (p.R238C) alteration is located in exon 2 (coding exon 2) of the ZC3H3 gene. This alteration results from a C to T substitution at nucleotide position 712, causing the arginine (R) at amino acid position 238 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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