ClinVar Miner

Submissions for variant NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter)

dbSNP: rs1555349209
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000599545 SCV000710739 pathogenic not provided 2022-11-28 criteria provided, single submitter clinical testing Nonsense variant in the C-terminus predicted to result in protein truncation, as the last 180 amino acids are lost, and other loss-of-function variants have been reported downstream in the Human Gene Mutation Database (HGMD); Not observed in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000599545 SCV001447025 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002280131 SCV002568245 likely pathogenic NKX2-1-related disorder 2022-06-27 criteria provided, single submitter clinical testing PVS1, PM2
Molecular Diagnostics Lab, Nemours Children's Health, Delaware RCV003236822 SCV003935957 pathogenic Brain-lung-thyroid syndrome 2020-02-28 criteria provided, single submitter clinical testing

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