ClinVar Miner

Submissions for variant NM_001330260.2(SCN8A):c.2706del (p.Glu903fs)

dbSNP: rs2138862858
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001728035 SCV001976419 uncertain significance Developmental and epileptic encephalopathy, 13 2021-09-29 criteria provided, single submitter clinical testing This variant leads to a frameshift with a premature stop codon, however, there is currently litte evidence that loss of function variants are a disease causing mechanism. Thus, we report this variant with an uncertain significance.
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin RCV001728035 SCV004037180 likely pathogenic Developmental and epileptic encephalopathy, 13 criteria provided, single submitter not provided

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