ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.5818T>C (p.Cys1940Arg)

gnomAD frequency: 0.00001  dbSNP: rs747846577
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002318213 SCV000851483 uncertain significance Inborn genetic diseases 2017-02-01 criteria provided, single submitter clinical testing The p.C1940R variant (also known as c.5818T>C), located in coding exon 26 of the SCN2A gene, results from a T to C substitution at nucleotide position 5818. The cysteine at codon 1940 is replaced by arginine, an amino acid with highly dissimilar properties. This amino acid position is not conserved on species alignment. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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