ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)

gnomAD frequency: 0.00014  dbSNP: rs149315236
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Total submissions: 6
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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 Migraine, familial hemiplegic, 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 2019-10-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001438907 SCV001641788 likely benign Early infantile epileptic encephalopathy with suppression bursts 2025-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002350223 SCV002646683 likely benign Inborn genetic diseases 2019-12-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224323 SCV003920413 uncertain significance Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B 2021-03-30 criteria provided, single submitter clinical testing SCN1A NM_001165963 exon 26 p.Pro1739Pro (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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004701623 SCV005204949 benign not specified 2024-06-10 criteria provided, single submitter clinical testing

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