ClinVar Miner

Submissions for variant NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)

dbSNP: rs724159953
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000193013 SCV000247232 pathogenic DYRK1A-related intellectual disability syndrome 2015-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000413642 SCV000490518 pathogenic not provided 2024-04-20 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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; This variant is associated with the following publications: (PMID: 25920557, 25363760, 28053047, 28191890, 31332282, 31981491, 28714951, 35982159, 33057194, 35982160, 37595579, 31785789, 34345024, 31440721)
Baylor Genetics RCV000193013 SCV000807305 pathogenic DYRK1A-related intellectual disability syndrome 2017-09-01 criteria provided, single submitter clinical testing This nonsense mutation is categorized as deleterious according to ACMG guidelines (PMID:18414213). It was found in three unrelated probands in our laboratory, twice confirmed de novo. Patients showed intellectual disability, microcephaly, and two also dysmorphic features and seizures
Labcorp Genetics (formerly Invitae), Labcorp RCV000193013 SCV000822250 pathogenic DYRK1A-related intellectual disability syndrome 2023-06-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 162158). This premature translational stop signal has been observed in individual(s) with syndromic intellectual disability (PMID: 25920557, 28053047). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg437*) in the DYRK1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYRK1A are known to be pathogenic (PMID: 25944381).
Ambry Genetics RCV001267631 SCV001445813 pathogenic Inborn genetic diseases 2019-11-07 criteria provided, single submitter clinical testing
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV000193013 SCV002559159 pathogenic DYRK1A-related intellectual disability syndrome criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000149564 SCV000196063 pathogenic Seizure; Feeding difficulties; Deeply set eye; Microcephaly; Intellectual disability; Absent or delayed speech development 2014-09-09 no assertion criteria provided clinical testing
GenomeConnect - Simons Searchlight RCV001265301 SCV001443418 pathogenic Complex neurodevelopmental disorder 2018-08-13 no assertion criteria provided provider interpretation Submission from Simons Searchlight facilitated by GenomeConnect. Variant interpreted by the Simons Searchlight team most recently on 2018-08-13 and interpreted as Pathogenic. Variant was initially reported on 2017-03-10 by GTR ID of laboratory name 1006. The reporting laboratory might also submit to ClinVar.

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