ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3874del (p.Gln1292fs)

dbSNP: rs1787127981
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001056604 SCV001221055 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2019-01-19 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GLI3 gene (p.Gln1292Serfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 289 amino acids of the GLI3 protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the GLI3 protein. Other variant(s) that disrupt this region (p.Glu1500*) have been determined to be pathogenic (Invitae). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with GLI3-related conditions. This variant is not present in population databases (ExAC no frequency).
Laboratory of Medical Genetics, National & Kapodistrian University of Athens RCV003313984 SCV004014029 pathogenic Greig cephalopolysyndactyly syndrome 2023-03-22 criteria provided, single submitter clinical testing PVS1, PM2, PP5

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