ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1578del (p.Phe527fs) (rs1064793685)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479622 SCV000566778 pathogenic not provided 2015-06-04 criteria provided, single submitter clinical testing The c.1578delC deletion in the GLI3 gene causes a frameshift starting with codon Phenylalanine 527,changes this amino acid to a Serine residue and creates a premature Stop codon at position 8 of the newreading frame, denoted p.PHe527SerfsX8. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The c.1578delC deletion was not observed in approximately 6,500 individuals of European and African American ancestry in theNHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Anearby frameshift (c.1561_1576del16) has been reported in the Human Gene Mutation Database inassociation with Greig cephalopolysyndactyly syndrome (GCPS) (Stenson et al., 2014). Although thisvariant has not been previously reported to our knowledge, we consider it pathogenic.

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