ClinVar Miner

Submissions for variant NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)

dbSNP: rs781422192
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV001450018 SCV001653567 pathogenic Greig cephalopolysyndactyly syndrome 2021-06-01 criteria provided, single submitter research
Mendelics RCV002246386 SCV002516492 pathogenic Pallister-Hall syndrome 2022-05-04 criteria provided, single submitter clinical testing
GeneDx RCV002265029 SCV002547064 pathogenic not provided 2022-01-05 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 34638259, 25525159, 33502061, 34482537, 31502745)
Ambry Genetics RCV003264039 SCV003970703 pathogenic Inborn genetic diseases 2023-05-19 criteria provided, single submitter clinical testing The c.1999C>T (p.R667*) alteration, located in exon 13 (coding exon 12) of the GLI3 gene, consists of a C to T substitution at nucleotide position 1999. This changes the amino acid from a arginine (R) to a stop codon at amino acid position 667. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This allele was reported in one heterozygous individual in population-based cohorts in the Genome Aggregation Database (gnomAD). This variant has been reported in a family with features consistent with GLI3-related digital anomaly disorders (Sczakiel, 2021). Based on the available evidence, this alteration is classified as pathogenic.

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