ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)

gnomAD frequency: 0.00006  dbSNP: rs121918802
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000416094 SCV000242655 benign not provided 2020-02-14 criteria provided, single submitter clinical testing Reported previously an individual with infantile spasms and mild intellectual disability; however, family studies were not performed (Wallace et al., 2003); This substitution is within the C-terminal cytoplasmic domain of the protein (Escayg et al., 2010); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 23527921, 14504318)
CeGaT Center for Human Genetics Tuebingen RCV000416094 SCV000493672 uncertain significance not provided 2016-07-31 criteria provided, single submitter clinical testing
Invitae RCV000537890 SCV000633877 benign Early infantile epileptic encephalopathy with suppression bursts 2021-11-02 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764283 SCV000895302 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
Mendelics RCV002247465 SCV002516801 likely benign not specified 2022-05-04 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059551 SCV000091083 not provided West syndrome no assertion provided not provided

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