ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1377+1del

dbSNP: rs1057518129
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413091 SCV000491546 pathogenic not provided 2016-10-24 criteria provided, single submitter clinical testing The c.1377+1delG pathogenic splice site variant in the SCN1A gene destroys the canonical splice donor site in intron 9. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Furthermore, c.1377+1delG was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Although this pathogenic variant has not been previously reported to our knowledge, other splice site variants have been reported in the Human Gene Mutation Database in association with SCN1A-related disorders (Stenson et al., 2014).

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