ClinVar Miner

Submissions for variant NM_001081.3(CUBN):c.1450A>G (p.Ser484Gly) (rs750735519)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726268 SCV000343302 uncertain significance not provided 2016-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000726268 SCV000536247 uncertain significance not provided 2017-01-26 criteria provided, single submitter clinical testing The S484G variant in the CUBN gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S484G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The S484G 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 where amino acids with similar properties to Serine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S484G as a variant of uncertain significance.

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