Submissions for variant NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter)

dbSNP: rs1034583315

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Clinical Genetics and Genomics, Karolinska University Hospital	RCV001269781	SCV001450036	likely pathogenic	not provided	2018-11-07	criteria provided, single submitter	clinical testing
GeneDx	RCV001269781	SCV001817911	likely pathogenic	not provided	2025-03-25	criteria provided, single submitter	clinical testing	Identified in an individual with a neurodevelopmental disorder, but segregation was unknown and detailed clinical information was not provided (PMID: 33004838); 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: 33004838)
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine	RCV003127746	SCV003804093	likely pathogenic	Autism spectrum disorder		criteria provided, single submitter	clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV004698432	SCV005199952	likely pathogenic	Okur-Chung neurodevelopmental syndrome	2024-08-26	criteria provided, single submitter	clinical testing