ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.2252del (p.Asp751fs)

dbSNP: rs1057518698
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000415028 SCV000328804 pathogenic Polydactyly, postaxial, type A1 2015-05-14 no assertion criteria provided clinical testing This variant was reported by our lab in an individual with global developmental delay, autistic features, history of congenital hypothyroidism, postaxial polydactyly, intellectual disability, hypotonia, dysmorphic features, joint contractures, and hyperphagia. This variant has not been reported previously; however, another frameshift pathogenic variant c.2292delA (p.Ala765fs) has been reported in multiple affected family members of a family with polydactyly, postaxial, types A (PMID 9354785). These two frameshifts are predicted to cause a premature stop of protein coding at the same position (amino acid position 779). Variant was inherited from the father, who also had postaxial polydactyly. A second pathogenic variant, in LAS1L (NM_031206.4, c.1243C>T), was also reported in this individual.

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