ClinVar Miner

Submissions for variant NM_001371246.1(SCN2A):c.687T>C (p.Ser229=)

gnomAD frequency: 0.00002  dbSNP: rs746904068
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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 RCV000768307 SCV000898952 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2018-09-19 criteria provided, single submitter clinical testing SCN2A NM_001040143.1 exon 5 p.Ser229= (c.687T>C): This variant has not been reported in the literature but is present in 4/33468 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs746904068). 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 RCV001797139 SCV002038861 likely benign not provided 2021-06-14 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224451 SCV003920423 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11; Episodic ataxia, type 9 2021-03-30 criteria provided, single submitter clinical testing SCN2A NM_001040143.1 exon 5 p.Ser229= (c.687T>C): This variant has not been reported in the literature but is present in 4/33468 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs746904068). 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.

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