ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.2064G>C (p.Glu688Asp)

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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 RCV004818850 SCV005438747 uncertain significance Developmental and epileptic encephalopathy, 64 2023-07-22 criteria provided, single submitter clinical testing The observed missense c.2064G>Cp.Glu688Asp variant in RHOBTB2 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 Glu at position 688 is changed to a Asp changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Glu688Asp in RHOBTB2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. 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. For these reasons, this variant has been classified as Uncertain Significance.

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