ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.4276A>G (p.Ile1426Val)

gnomAD frequency: 0.00001  dbSNP: rs370977114
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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 RCV003215494 SCV003903123 uncertain significance Inborn genetic diseases 2023-02-28 criteria provided, single submitter clinical testing The c.4276A>G (p.I1426V) 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 4276, causing the isoleucine (I) at amino acid position 1426 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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