ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1778del (p.Arg593fs)

dbSNP: rs1583747773
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796308 SCV000935815 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2018-08-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg593Profs*36) 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 affected with Grieg cephalopolysyndactyly (Invitae). Loss-of-function variants in GLI3 are known to be pathogenic (PMID: 10441570, 15739154). For these reasons, this variant has been classified as Pathogenic.

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