ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.602_675del (p.Met201fs)

dbSNP: rs2128742642
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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 RCV001894291 SCV002122784 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2021-11-06 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 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.Met201Argfs*51) 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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