ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2901del (p.Val968fs) (rs1064796278)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486324 SCV000572837 likely pathogenic not provided 2017-01-30 criteria provided, single submitter clinical testing The c.2901delC variant in the GLI3 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2901delC variant causes a frameshift starting with codon Valine 968, changes this amino acid to a Tryptophan residue, and creates a premature Stop codon at position 35 of the new reading frame, denoted p.Val968TrpfsX35. This variant is predicted to cause loss of normal protein function through protein truncation as the last 613 amino acids of the protein are lost and replaced with 34 incorrect amino acids. The c.2901delC variant was not observed in the Exome Aggregation Consortium (ExAC) data set, indicating it is not a common benign variant. We interpret c.2901delC as a likely pathogenic variant

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