ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4665dup (p.Asn1556fs) (rs1554304247)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478594 SCV000566151 pathogenic not provided 2015-04-17 criteria provided, single submitter clinical testing The c.4665dupC variant in the GLI3 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. The c.4665dupC duplication causes a frameshift startingwith codon Asparagine 1556, changes this amino acid to a Glutamine residue and creates a Stop codon atposition 42 of the new reading frame, denoted p.Asn1556GlnfsX42. This variant is predicted to replacethe last 25 amino acids typically present in the protein with 41 incorrect amino acids, likely impacting theprotein structure and function. The c.4665dupC variant was not observed in approximately 6,500individuals of European and African American ancestry in the NHLBI Exome Sequencing Project,indicating it is not a common benign variant in these populations. We interpret c.4665dupC as a pathogenic variant.

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