ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) (rs121917973)

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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 RCV000723903 SCV000203502 uncertain significance not provided 2014-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000723903 SCV000242554 uncertain significance not provided 2021-11-04 criteria provided, single submitter clinical testing Additionally, reported multiple times in other previous publications in association with epilepsy; however, parental testing has not been reported, and one individual was also found to have a second SCN1A variant (including Harkin et al., 2007; Zuberi et al., 2011; Kodera et al., 2013; SCN1A Variant Database); This substitution is predicted to be within the extracellular loop between the S1 and S2 transmembrane segments of the third homologous domain; Observed in heterozygous state in many unrelated healthy adult individuals tested at GeneDx; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); This variant is associated with the following publications: (PMID: 16713913, 17166794, 23884151, 19586930, 21248271, 28150151, 16713920, 23662938, 19585586, 24136861, 18804930, 32090326, 32180723, 17347258, 31054490)
Invitae RCV000723903 SCV000633850 likely benign not provided 2018-12-17 criteria provided, single submitter clinical testing
Mendelics RCV000059405 SCV001136036 uncertain significance Severe myoclonic epilepsy in infancy 2019-05-28 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000723903 SCV001247843 uncertain significance not provided 2020-01-01 criteria provided, single submitter clinical testing
Invitae RCV001476333 SCV001680541 likely benign Early infantile epileptic encephalopathy with suppression bursts 2020-11-21 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059405 SCV000090929 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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