ClinVar Miner

Submissions for variant NM_002547.3(OPHN1):c.439C>G (p.Arg147Gly)

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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 RCV004764270 SCV005373525 uncertain significance X-linked intellectual disability-cerebellar hypoplasia syndrome 2023-06-02 criteria provided, single submitter clinical testing The observed missense variant c.439C>G(p.Arg147Gly) in OPHN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.439C>G variant is absent in gnomAD Exomes. The amino acid Arginine at position 147 is changed to a Glycine changing protein sequence and it might alter its composition and physico-chemical properties. Multiple lines of computational evidence (Polyphen-probabaly damaging, SIFT-damaging and Mutation Taster-disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid p.Arg147Gly in OPHN1 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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