ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.245_299del (p.Arg82fs)

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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 RCV002847628 SCV003227822 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-08-04 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 2022247). This variant has not been reported in the literature in individuals affected with GLI3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg82Thrfs*59) in the GLI3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GLI3 are known to be pathogenic (PMID: 10441570, 15739154, 18000979, 24736735).

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