Submissions for variant NM_177559.3(CSNK2A1):c.149A>G (p.Tyr50Cys)

dbSNP: rs869312849

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000497586	SCV000590442	pathogenic	not provided	2022-12-15	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31729156, 34038195, 33994545, 32472542, 32371413)
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital	RCV001249616	SCV001423646	pathogenic	Okur-Chung neurodevelopmental syndrome	2018-03-26	criteria provided, single submitter	clinical testing	[ACMG/AMP: PS2, PM2, PM5, PP2, PP5] This alteration is de novo in origin as it was not detected in the submitted parental specimens (identity confirmed) [PS2], is absent from or rarely observed in large-scale population databases [PM2], is a novel missense change at an amino residue where a different missense change has been deemed to be pathogenic [PM5], is a missense variant in a gene in which missense variants are a common mechanism of disease [PP2], was reported as a pathogenic/likely pathogenic alteration by a reputable source (ClinVar or other correspondence from a clinical testing laboratory) [PP5].
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	RCV001249616	SCV002512708	likely pathogenic	Okur-Chung neurodevelopmental syndrome	2022-01-24	criteria provided, single submitter	clinical testing	ACMG classification criteria: PS4 supporting, PM2 moderate, PM5, PP2 supporting, PP3 supporting
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	RCV001249616	SCV004022286	pathogenic	Okur-Chung neurodevelopmental syndrome	2023-07-31	criteria provided, single submitter	clinical testing
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	RCV000497586	SCV000778294	pathogenic	not provided	2018-01-02	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000497586	SCV001808889	pathogenic	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000497586	SCV001954923	likely pathogenic	not provided		no assertion criteria provided	clinical testing