ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4516A>T (p.Lys1506Ter) (rs794726835)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180963 SCV000221945 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000352668 SCV000330283 pathogenic not provided 2016-08-23 criteria provided, single submitter clinical testing The K1517X nonsense variant in the SCN1A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the K1517X variant 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 nonsense variants downstream of this position have been reported in the Human Gene Mutation Database in association with SCN1A-related disorders (Stenson et al., 2014).

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