ClinVar Miner

Submissions for variant NM_014930.3(ZNF510):c.1478G>A (p.Cys493Tyr)

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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 RCV005297678 SCV005971179 uncertain significance not specified 2025-02-28 criteria provided, single submitter clinical testing The c.1478G>A (p.C493Y) alteration is located in exon 6 (coding exon 5) of the ZNF510 gene. This alteration results from a G to A substitution at nucleotide position 1478, causing the cysteine (C) at amino acid position 493 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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