ClinVar Miner

Submissions for variant NM_015021.3(ZNF292):c.600C>G (p.Ile200Met)

gnomAD frequency: 0.00001  dbSNP: rs1446051059
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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 RCV002849367 SCV003619648 uncertain significance Inborn genetic diseases 2022-05-27 criteria provided, single submitter clinical testing The c.600C>G (p.I200M) alteration is located in exon 5 (coding exon 5) of the ZNF292 gene. This alteration results from a C to G substitution at nucleotide position 600, causing the isoleucine (I) at amino acid position 200 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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