ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.3409A>G (p.Lys1137Glu)

gnomAD frequency: 0.00003  dbSNP: rs1045188161
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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 RCV002664982 SCV003539200 uncertain significance Inborn genetic diseases 2022-03-23 criteria provided, single submitter clinical testing The c.3409A>G (p.K1137E) alteration is located in exon 8 (coding exon 8) of the ZNF292 gene. This alteration results from a A to G substitution at nucleotide position 3409, causing the lysine (K) at amino acid position 1137 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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