ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.3904_3912delinsT (p.Asn1302fs)

dbSNP: rs1562657560
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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 RCV000700476 SCV000829233 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2018-06-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the GLI3 gene (p.Asn1302Cysfs*45). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 279 amino acids of the GLI3 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GLI3-related disease. A different truncation (p.Glu1500*) that lies downstream of this variant has been determined to be pathogenic (Invitae). This suggests that deletion of this region of the GLI3 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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