ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4145G>A (p.Gly1382Asp) (rs1064796822)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483158 SCV000573924 uncertain significance not provided 2018-02-14 criteria provided, single submitter clinical testing The G1382D variant in the GLI3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1382D variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G1382D 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 not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret G1382D as a variant of uncertain significance.

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