ClinVar Miner

Submissions for variant NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter)

dbSNP: rs1553187443
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503533 SCV000594934 pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2016-07-08 criteria provided, single submitter clinical testing
GeneDx RCV002527254 SCV003195129 pathogenic not provided 2022-07-21 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; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31949314, 32688057)
Genome-Nilou Lab RCV000503533 SCV004050288 pathogenic Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 2023-04-11 criteria provided, single submitter clinical testing

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