ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1700G>C (p.Arg567Thr)

dbSNP: rs1176739172
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001815057 SCV002061896 uncertain significance Developmental and epileptic encephalopathy 6B 2022-01-24 criteria provided, single submitter clinical testing The variant was found in a patient with therapy-difficult epilepsy. The variant is not listed in any database and is not described in literature. It affects a highly conserved amino acid within a highly conserved region. The variant is not listed in gnomAD. All prediction programs predict a damaging effect of the variant. In conclusion, we classify this variant as Variant of unknown clinical significance. ACMG criteria: PM2, PP2, PP3

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