ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.379C>G (p.His127Asp)

gnomAD frequency: 0.00011  dbSNP: rs148442069
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000724565 SCV000227215 uncertain significance not provided 2015-03-12 criteria provided, single submitter clinical testing
GeneDx RCV000724565 SCV000242461 uncertain significance not provided 2022-12-13 criteria provided, single submitter clinical testing Reported as a de novo change in an individual with clinical features of borderline Dravet syndrome; however, paternity was not established (Zuberi et al., 2011). In the same paper, H127D was identified in another individual with classic Dravet syndrome who had another missense variant (P1451S) in SCN1A (Zuberi et al., 2011).; Missense variants in this gene are often considered pathogenic (HGMD); This substitution is predicted to be in the N-terminal cytoplasmic domain; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 20831750, 21248271, 28150151, 28202706, 29655203, 32090326, 32725632, 34598035)
Invitae RCV000474474 SCV000548782 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-30 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000764287 SCV000895306 uncertain significance Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 2018-10-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724565 SCV004033780 likely benign not provided 2023-10-01 criteria provided, single submitter clinical testing SCN1A: PM5, PP3, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000724565 SCV001739893 uncertain significance not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000724565 SCV001957154 uncertain significance not provided no assertion criteria provided clinical testing

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