ClinVar Miner

Submissions for variant NM_001386298.1(CIC):c.2326T>A (p.Ser776Thr)

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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 RCV004818845 SCV005438740 uncertain significance Intellectual disability, autosomal dominant 45 2023-07-22 criteria provided, single submitter clinical testing The missense variant c.2326T>A p.Ser776Thr in the CIC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Ser at position 776 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ser776Thr in CIC is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance

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