ClinVar Miner

Submissions for variant NM_001122630.2(CDKN1C):c.665G>A (p.Arg222His)

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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 RCV005312957 SCV005977984 uncertain significance Inborn genetic diseases 2025-02-12 criteria provided, single submitter clinical testing The c.698G>A (p.R233H) alteration is located in exon 1 (coding exon 1) of the CDKN1C gene. This alteration results from a G to A substitution at nucleotide position 698, causing the arginine (R) at amino acid position 233 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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