ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter) (rs794726720)

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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 Bioinformatics, Peking University RCV000180826 SCV000221790 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Ambry Genetics RCV000624326 SCV000741574 pathogenic Inborn genetic diseases 2016-07-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000720181 SCV000851058 pathogenic History of neurodevelopmental disorder 2016-06-13 criteria provided, single submitter clinical testing The p.W1205* pathogenic mutation (also known as c.3615G>A), located in coding exon 18 of the SCN1A gene, results from a G to A substitution at nucleotide position 3615. This changes the amino acid from a tryptophan to a stop codon within coding exon 18. Since premature stop codons are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

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