ClinVar Miner

Submissions for variant NM_052867.4(NALCN):c.3959C>T (p.Thr1320Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine RCV003127467 SCV003804057 uncertain significance Developmental disorder criteria provided, single submitter clinical testing
GeneDx RCV003443169 SCV004169019 pathogenic not provided 2023-11-08 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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