ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5594T>C (p.Leu1865Pro)

dbSNP: rs2105425720
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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 Leipzig Medical Center RCV002226569 SCV002505529 uncertain significance Generalized epilepsy with febrile seizures plus, type 2 2022-04-21 criteria provided, single submitter clinical testing Despite strong evidence for its pathogenicity, this variant has to be classified as of unknown significance, according to the ACMG-criteria (Richards et al., 2015)_x000D_ Criteria applied: PM1_SUP, PM2_SUP, PP2, PP3, PP4

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