ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.868C>T (p.Arg290Ter) (rs121917713)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554724 SCV000630810 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2016-07-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 290 (p.Arg290*) of the GLI3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLI3 are known to be pathogenic. This particular variant has been reported in the literature in individuals and families affected with preaxial polydactylytype-IV and Greig cephalopolysyndactyly syndrome (PMID: 15739154, 24736735, 15811011). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000014837 SCV000035092 pathogenic Greig cephalopolysyndactyly syndrome 2008-04-24 no assertion criteria provided literature only
OMIM RCV000014838 SCV000035093 pathogenic Preaxial polydactyly 4 2008-04-24 no assertion criteria provided literature only

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