ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2874G>C (p.Met958Ile)

dbSNP: rs1559377161
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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 RCV002317563 SCV000851066 uncertain significance Inborn genetic diseases 2020-05-29 criteria provided, single submitter clinical testing The p.M958I variant (also known as c.2874G>C), located in coding exon 15 of the SCN2A gene, results from a G to C substitution at nucleotide position 2874. The methionine at codon 958 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this variant remains unclear.

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