ClinVar Miner

Submissions for variant NM_005639.3(SYT1):c.845G>A (p.Arg282His)

dbSNP: rs1882993257
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001311001 SCV001501009 likely pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University Hospital of Duesseldorf RCV003458663 SCV004177248 uncertain significance Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome criteria provided, single submitter not provided
GeneDx RCV001311001 SCV005369855 uncertain significance not provided 2023-05-30 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; Has not been previously published as pathogenic or benign to our knowledge

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