ClinVar Miner

Submissions for variant NM_018300.4(ZNF83):c.1217G>A (p.Cys406Tyr)

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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 RCV005303269 SCV005972238 uncertain significance not specified 2024-12-13 criteria provided, single submitter clinical testing The c.1217G>A (p.C406Y) alteration is located in exon 6 (coding exon 1) of the ZNF83 gene. This alteration results from a G to A substitution at nucleotide position 1217, causing the cysteine (C) at amino acid position 406 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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