ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn) (rs1553525325)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute RCV000578191 SCV000680004 likely pathogenic Severe myoclonic epilepsy in infancy 2017-08-29 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_001165963.1(SCN1A):c.4040T>A in exon 21 of the SCN1A gene (chr2:166859226). This substitution is predicted to create a change of an isoleucine to an asparagine at amino acid position 1347, NP_001159435.1(SCN1A):p.(Ile1347Asn). The isoleucine at this position has high conservation and is located within an ion transport domain. Grantham assessment is likely deleterious due to both conservation and amino acid properties. In silico software predicts this variant to be disease causing. This variant has not been previously observed in our patient cohort, has not been previously reported in clinical cases and is not present in population databases. Subsequenct testing of parental samples indicated that this variant is due to a de novo event, paternity confirmed. Based on current information, this variant has been classified as LIKELY PATHOGENIC.

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