ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val) (rs779184118)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000188856 SCV000242486 uncertain significance not provided 2014-06-02 criteria provided, single submitter clinical testing p.Gly329Val (GGT>GTT): c.986 G>T in exon 7 of the SCN1A gene (NM_001165963.1) A variant of unknown significance has been identified in the SCN1A gene. The G329V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G329V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution alters a conserved position predicted to be between transmembrane segments S5 and S6 of the first homologous domain, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Additionally, missense mutations in nearby residues (R322I, Y325C, C336Y) have been reported in association with myoclonic epilepsy of infancy and Dravet syndrome, supporting the functional importance of this region of the protein. Therefore, based on the currently available information, it is unclear whether the G329V variant is a pathogenic mutation or a rare benign variant. The variant is found in CHILD-EPI panel(s).
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne RCV000677680 SCV000803823 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2017-10-02 criteria provided, single submitter clinical testing
Mendelics RCV000986909 SCV001136063 pathogenic Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000188856 SCV001152520 likely pathogenic not provided 2017-07-01 criteria provided, single submitter clinical testing

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