ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.2140G>A (p.Ala714Thr)

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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 RCV003337857 SCV004048224 uncertain significance Developmental and epileptic encephalopathy, 64 criteria provided, single submitter clinical testing The missense variant c.2206G>A (p.Ala736Thr) in RHOBTB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ala736Thr variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ala at position 736 is changed to a Thr changing protein sequence and it might alter its composition and physico-chemical properties. In silico tools predict the variant to be tolerated. The residue is conserved across species. The amino acid change p.Ala736Thr in RHOBTB2 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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