ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1096C>T (p.Arg366Ter)

dbSNP: rs1583805203
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000822914 SCV000963739 pathogenic Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome 2023-07-07 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individuals with Greig cephalopolysyndactyly syndrome (PMID: 12794692, 20672375). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 664752). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg366*) 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).
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579780 SCV001808493 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579780 SCV001965247 pathogenic not provided no assertion criteria provided clinical testing

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