ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.5184C>T (p.Pro1728=) (rs149315236)

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Total submissions: 3
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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 RCV000768075 SCV000898947 uncertain significance Familial hemiplegic migraine type 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2017-11-02 criteria provided, single submitter clinical testing SCN1A NM_001165963.1 exon 26 p.Pro1739= (c.5217C>T):This variant has not been reported in the literature but is present in 4/15298 African alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs149315236). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV000828050 SCV000969726 likely benign not provided 2018-05-30 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000543027 SCV000633872 likely benign Early infantile epileptic encephalopathy 2017-12-13 criteria provided, single submitter clinical testing

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