ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.1342A>G (p.Ile448Val)

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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 RCV004547210 SCV005042576 uncertain significance Developmental and epileptic encephalopathy, 64 criteria provided, single submitter clinical testing The missense variant c.1342A>Gp.Ile448Val in RHOBTB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel not in any individuals in gnomAD Exomes and 1000 Genomes. The amino acid Isoleucine at position 448 is changed to a Valine changing protein sequence and it might alter its composition and physico-chemical properties. The amino acid change p.Ile448Val in RHOBTB2 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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