ClinVar Miner

Submissions for variant NM_016023.5(OTUD6B):c.326C>G (p.Ala109Gly)

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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 RCV004818929 SCV005438913 uncertain significance Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies criteria provided, single submitter clinical testing The observed missense variant c.326C>Gp.Ala109Gly in the OTUD6B gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is reported with the allele frequency 0.004% in the gnomAD Exomes. The amino acid Ala at position 109 is changed to a Gly changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence Polyphen - Damaging, SIFT - Damaging and MutationTaster - Disease causing predict a damaging effect on protein structure and function for this variant. The residue is conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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