ClinVar Miner

Submissions for variant NM_183381.3(RNF13):c.106A>G (p.Ile36Val)

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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 RCV003338057 SCV004046943 uncertain significance Developmental and epileptic encephalopathy, 73 criteria provided, single submitter clinical testing The missense c.106A>G (p.Ile36Val) variant in RNF13 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ile36Val variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. The amino acid Ile at position 36 is changed to a Val 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.Ile36Val in RNF13 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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