ClinVar Miner

Submissions for variant NM_015178.3(RHOBTB2):c.610A>T (p.Ile204Phe)

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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 RCV004764278 SCV005373536 uncertain significance Developmental and epileptic encephalopathy, 64 2023-06-02 criteria provided, single submitter clinical testing The observed missense variant c.610A>T(p.Ile204Phe) in the RHOBTB2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant absent in the gnomAD Exomes. The amino acid Ileucine at position 204 is changed to a Phenylalanine 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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