ClinVar Miner

Submissions for variant NM_007212.4(RNF2):c.766G>C (p.Val256Leu)

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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 RCV004577111 SCV005060936 uncertain significance Luo-Schoch-Yamamoto syndrome criteria provided, single submitter clinical testing The observed missense variant c.766G>C(p.Val256Leu) in RNF2 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.766G>C variant is absent in gnomAD Exomes.The amino acid Valine at position 256 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. The variant is predicted to be damaging by SIFT. The amino acid change p.Val256Leu in RNF2 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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