ClinVar Miner

Submissions for variant NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)

dbSNP: rs1695336858
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001253125 SCV001428669 likely pathogenic Waardenburg syndrome type 1 2019-06-24 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001255326 SCV001431712 likely pathogenic Intellectual disability 2020-08-03 criteria provided, single submitter clinical testing The variant c.270C>G, p.(Tyr90*) was identified in an individual with neurodevelopmental disorder (NDD) and classified as Likely pathogenic according to ACMG guidelines. Inheritance for this variant was unknown.The variant likely explains the NDD in this individual.
GeneDx RCV003222277 SCV003918471 pathogenic not provided 2023-01-23 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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