ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.384dup (p.Leu129fs)

dbSNP: rs886041501
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000361255 SCV000330166 pathogenic not provided 2016-01-20 criteria provided, single submitter clinical testing The c.384dupA pathogenic variant in the SCN1A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.384dupA variant causes a frameshift starting with codon leucine 129, changes this amino acid to an isoleucine residue, and creates a premature Stop codon at position 21 of the new reading frame, denoted p.L129IfsX21. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.384dupA 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.

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