ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1191_1206del (p.Thr398fs) (rs1554315071)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598716 SCV000710359 pathogenic not provided 2018-11-07 criteria provided, single submitter clinical testing The c.1191_1206del16 pathogenic variant in the GLI3 gene causes a frameshift starting with codon Threonine 398, changes this amino acid to a Serine residue and creates a premature Stop codon at position 21 of the new reading frame, denoted p.Thr398SerfsX21. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is not observed in large population cohorts (Lek et al., 2016).

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