ClinVar Miner

Submissions for variant NM_015267.4(CUX2):c.1486G>C (p.Ala496Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV005208316 SCV005849298 uncertain significance Developmental and epileptic encephalopathy, 67 2023-06-22 criteria provided, single submitter clinical testing The observed missense variant c.1486G>C(p.Ala496Pro) in CUX2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in gnomAD Exomes. The amino acid Ala at position 496 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen-Benign, SIFT-Tolerated and MutationTaster-polymorphism) predict no damaging effect on protein structure and function for this variant. For these reasons, this variant has been classified as Uncertain Significance.

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