ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.3041G>T (p.Gly1014Val)

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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 RCV004688413 SCV005183546 uncertain significance Inborn genetic diseases 2024-05-01 criteria provided, single submitter clinical testing The c.3041G>T (p.G1014V) alteration is located in exon 8 (coding exon 8) of the ZNF292 gene. This alteration results from a G to T substitution at nucleotide position 3041, causing the glycine (G) at amino acid position 1014 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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