Submissions for variant NM_001080517.3(SETD5):c.2734C>T (p.Arg912Ter)

dbSNP: rs2045177486

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001528943	SCV001791022	pathogenic	not provided	2023-03-03	criteria provided, single submitter	clinical testing	Identified as a maternally inherited variant among a cohort of neurodevelopmental disorders (NDD) cases; patient-specific data were not described (Wang et al., 2020); 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); This variant is associated with the following publications: (PMID: 33004838, 33144682)
Undiagnosed Diseases Network, NIH	RCV001788437	SCV002030288	pathogenic	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	2021-08-03	criteria provided, single submitter	clinical testing
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV001843575	SCV002102844	pathogenic	Developmental disorder	2021-09-23	criteria provided, single submitter	clinical testing
Autoinflammatory diseases unit, CHU de Montpellier	RCV001261243	SCV001438076	pathogenic	Cornelia de Lange-like syndrome	2018-07-03	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528943	SCV001741555	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001528943	SCV001957212	pathogenic	not provided		no assertion criteria provided	clinical testing