ClinVar Miner

Submissions for variant NM_177559.3(CSNK2A1):c.529G>A (p.Gly177Ser)

dbSNP: rs1555762734
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000623336 SCV000742945 likely pathogenic Inborn genetic diseases 2017-09-19 criteria provided, single submitter clinical testing
GeneDx RCV002285380 SCV002575592 pathogenic not provided 2022-09-22 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
MGZ Medical Genetics Center RCV002289912 SCV002579570 pathogenic Okur-Chung neurodevelopmental syndrome 2022-02-16 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV002289912 SCV004099136 pathogenic Okur-Chung neurodevelopmental syndrome 2023-09-14 criteria provided, single submitter clinical testing PS2, PM1, PM2, PP2, PP3

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