ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.5740G>A (p.Gly1914Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224732 SCV003920457 uncertain significance Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2 2021-03-30 criteria provided, single submitter clinical testing SCN8A NM_014191.3 exon 27 p.Gly1914Ser (c.5740G>A): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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