ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.7503G>C (p.Glu2501Asp)

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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 RCV004688404 SCV005183535 uncertain significance Inborn genetic diseases 2024-05-30 criteria provided, single submitter clinical testing The c.7503G>C (p.E2501D) alteration is located in exon 8 (coding exon 8) of the ZNF292 gene. This alteration results from a G to C substitution at nucleotide position 7503, causing the glutamic acid (E) at amino acid position 2501 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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