ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1343T>C (p.Ile448Thr) (rs755962326)

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Total submissions: 2
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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 RCV000768078 SCV000898950 uncertain significance Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2018-04-09 criteria provided, single submitter clinical testing SCN1A NM_001165963.1 exon 9 p.Ile448Thr (c.1343T>C): This variant has not been reported in the literature but is present in 5/30778 South Asian alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs755962326). Evolutionary conservation and computational predictive tools are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV001568765 SCV001792691 uncertain significance not provided 2019-09-03 no assertion criteria provided clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This substitution is predicted to be within the cytoplasmic loop between the first and second homologous domains

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