ClinVar Miner

Submissions for variant NM_015117.3(ZC3H3):c.1693G>A (p.Ala565Thr)

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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 RCV004893125 SCV005536653 uncertain significance not specified 2024-12-09 criteria provided, single submitter clinical testing The c.1693G>A (p.A565T) alteration is located in exon 4 (coding exon 4) of the ZC3H3 gene. This alteration results from a G to A substitution at nucleotide position 1693, causing the alanine (A) at amino acid position 565 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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