ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.750del (p.Tyr251fs)

dbSNP: rs1554317931
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ali Lab, Centre for Genetic Disorders, Banaras Hindu University RCV000627064 SCV000743094 pathogenic Greig cephalopolysyndactyly syndrome 2013-10-19 criteria provided, single submitter research c.750delC in heterozygous state transmitting in the family and co-segregating with the disorder suggesting it to be the causal for the GCPS phenotype in the family. In silico analysis suggests that this mutation creates a truncated GLI3 protein resulting in its haploinsufficiency leading to GCPS syndrome. Furthermore, genotype-phenotype correlation is supported by the mutation as it lies in the amino terminal domain of the protein.

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