ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.535C>T (p.Gln179Ter)

dbSNP: rs2080305309
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268541 SCV001447530 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268541 SCV005386300 pathogenic not provided 2024-02-26 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 to our knowledge

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