ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4606T>A (p.Ser1536Thr) (rs75313224)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255680 SCV000321735 uncertain significance not provided 2015-03-14 criteria provided, single submitter clinical testing The S1536T variant in the GLI3 gene has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. The S1536T variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project; however, data from ethnically-matched control individuals were not available to assess for a population-specific benign variant. The S1536T variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret S1536T as a variant of unknown significance.

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