ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.479A>G (p.His160Arg)

dbSNP: rs2018334830
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001655705 SCV001870981 pathogenic not provided 2024-12-11 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: 38357263, 32651551, 38444259, 36310603, 34038195)
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001655705 SCV002568845 pathogenic not provided criteria provided, single submitter clinical testing
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV001252211 SCV004123111 likely pathogenic Okur-Chung neurodevelopmental syndrome 2023-11-16 criteria provided, single submitter clinical testing The variant in affected individuals is heterozygous.The affected individual has severe global developmental delay. In summary, the variant meets our criteria to be classified as likely pathogenic.
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille RCV001252211 SCV001427962 likely pathogenic Okur-Chung neurodevelopmental syndrome 2019-01-01 no assertion criteria provided clinical testing

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