ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1364_1365delinsT (p.Lys455fs)

dbSNP: rs1064796123
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000487214 SCV000572568 likely pathogenic not provided 2017-08-18 criteria provided, single submitter clinical testing The c.1364_1365delAGinsT variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1364_1365delAGinsT variant causes a frameshift starting with codon Lysine 455, changes this amino acid to an Isoleucine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Lys455IlefsX26. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The p.Lys455IlefsX26 variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret p.Lys455IlefsX26 as a likely pathogenic variant.

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