ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.606-159A>G (rs1553567473)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000578189 SCV000680024 likely pathogenic Early infantile epileptic encephalopathy 11 2017-09-11 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_001040143.1(SCN2A):c.634A>G in exon 5 of the SCN2A gene (neonatal isoform). This substitution is predicted to create a minor amino acid change from an asparagine to an aspartic acid at position 212, NP_001035233.1(SCN2A):p.(Asn212Asp). The asparagine at this position has very high conservation (100 vertebrates, UCSC). In silico software predicts this variant to be disease causing (Polyphen, SIFT, Mutation Taster, CADD). It is situated in an ion transporter domain (within a linker region between two transmembrane segments). It is not present in the gnomAD population database and it has been previously reported in a patient with Ohtahara syndrome as a de novo event (Nakamura, K. et al. (2013)). Subsequent testing of parental samples indiciated this variant is due to a de novo event. Based on current information, this variant has been classified as LIKELY PATHOGENIC.
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne RCV000578189 SCV000966183 pathogenic Early infantile epileptic encephalopathy 11 2018-08-28 criteria provided, single submitter clinical testing

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