ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1927C>T (p.Arg643Ter)

dbSNP: rs121917709
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001836708 SCV000992250 pathogenic Abnormality of prenatal development or birth 2021-07-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003390683 SCV004111486 pathogenic GLI3-related condition 2023-05-10 criteria provided, single submitter clinical testing The GLI3 c.1927C>T variant is predicted to result in premature protein termination (p.Arg643*). This variant in the heterozygous condition was reported in individuals with postaxial polydactyly (Radhakrishna et al 1999. PubMed ID: 10441570; Kariminejad et al 2020. PubMed ID: 32112393). This variant in the homozygous condition was reported in a fetus from consanguineous family with Pallister-Hall-like syndrome (Kariminejad et al 2020. PubMed ID: 32112393). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in GLI3 are expected to be pathogenic. This variant is interpreted as pathogenic.
OMIM RCV000014831 SCV000035086 pathogenic Postaxial polydactyly, type A1/B 1999-09-01 no assertion criteria provided literature only

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