ClinVar Miner

Submissions for variant NM_006267.5(RANBP2):c.2977T>G (p.Ser993Ala)

dbSNP: rs1064796454
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482620 SCV000573188 uncertain significance not provided 2017-02-24 criteria provided, single submitter clinical testing The S993A variant in the RANBP2 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S993A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S993A variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S993A as a variant of uncertain significance.

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