ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.2388C>G (p.Asp796Glu)

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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 RCV005208328 SCV005849321 uncertain significance Intellectual disability, X-linked, syndromic, Houge type criteria provided, single submitter clinical testing The observed missense variant c.2388C>G(p.Asp796Glu) in CNKSR2 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 Asp at position 796 is changed to a Glu 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. The reference amino acid p.Asp796Glu in CNKSR2 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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