ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.7285C>T (p.Arg2429Trp)

dbSNP: rs1379680822
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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 RCV002723265 SCV003562277 uncertain significance Inborn genetic diseases 2021-06-22 criteria provided, single submitter clinical testing The c.7285C>T (p.R2429W) alteration is located in exon 8 (coding exon 8) of the ZNF292 gene. This alteration results from a C to T substitution at nucleotide position 7285, causing the arginine (R) at amino acid position 2429 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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