ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1433_1434del (p.Ile477_Tyr478insTer)

dbSNP: rs1583801167
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000806324 SCV000946315 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2018-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr478*) in the GLI3 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual with clinical features of Greig cephalopolysyndactyly syndrome (Invitae). Loss-of-function variants in GLI3 are known to be pathogenic (PMID: 10441570, 15739154, 18000979, 24736735). For these reasons, this variant has been classified as Pathogenic.

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