ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.4395del (p.Ser1466fs)

dbSNP: rs1554304380
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534797 SCV000630803 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2016-05-05 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature. However a pathogenic frameshift variant (p.Thr1488Lysfs*23) occurs downstream of this frameshift (PMID: 24736735), which indicates truncation of the 3' end of the GLI3 protein is deleterious. This sequence change deletes 1 nucleotide from exon 15 of the GLI3 mRNA (c.4395delC), causing a frameshift at codon 1466. This creates a premature translational stop signal in the last exon of the GLI3 mRNA (p.Ser1466Alafs*22). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated GLI3 protein.

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