ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.935G>A (p.Arg312Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV003145955 SCV003830360 uncertain significance Developmental and epileptic encephalopathy, 67 2021-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246129 SCV004853259 uncertain significance Inborn genetic diseases 2021-08-30 criteria provided, single submitter clinical testing The c.935G>A (p.R312Q) alteration is located in exon 11 (coding exon 11) of the CUX2 gene. This alteration results from a G to A substitution at nucleotide position 935, causing the arginine (R) at amino acid position 312 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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