ClinVar Miner

Submissions for variant NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter)

dbSNP: rs1574994308
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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 Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268857 SCV001448064 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
GeneDx RCV001268857 SCV001981913 pathogenic not provided 2021-09-16 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 in large population cohorts (Lek et al., 2016); Identified in a patient with an unspecified neurological and developmental disorder in the published literature (Turro et al., 2020); This variant is associated with the following publications: (PMID: 32581362)
NIHR Bioresource Rare Diseases, University of Cambridge RCV001003578 SCV001161955 likely pathogenic Intellectual disability no assertion criteria provided research

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