Submissions for variant NM_001347721.2(DYRK1A):c.760C>T (p.Arg254Ter)

dbSNP: rs886041291

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000306377	SCV000329641	pathogenic	not provided	2022-10-19	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 (gnomAD); This variant is associated with the following publications: (PMID: 26922654, 28053047, 33880059, 31785789)
CeGaT Center for Human Genetics Tuebingen	RCV000306377	SCV001246786	pathogenic	not provided	2017-06-01	criteria provided, single submitter	clinical testing
Génétique des Maladies du Développement, Hospices Civils de Lyon	RCV001255396	SCV001431796	pathogenic	Global developmental delay	2019-11-01	criteria provided, single submitter	clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV003126661	SCV003803826	pathogenic	DYRK1A-related intellectual disability syndrome	2020-01-04	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV003126661	SCV004801512	pathogenic	DYRK1A-related intellectual disability syndrome	2018-02-13	criteria provided, single submitter	clinical testing	The DYRK1A c.787C>T (p.Arg263Ter) stop-gained variant has been reported in two patients in the literature in a de novo state (Luco et al. 2016; Evers et al. 2017). Both patients had intellectual disability, microcephaly (post-natal onset specified for at least one patient), developmental delay and deeply set eyes in common. Control data are unavailable for this variant. This variant is absent from the Genome Aggregation Database. Based on the available evidence, the c.787C>T (p.Arg263Ter) variant is classified as pathogenic for DYRK1A-related intellectual disability syndrome.