ClinVar Miner

Submissions for variant NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter)

dbSNP: rs755371824
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260780 SCV001437872 likely pathogenic Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
GeneDx RCV002473248 SCV002769950 pathogenic not provided 2022-06-13 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); Has not been previously published as pathogenic or benign in association with neurodevelopmental disorders to our knowledge

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