ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3681A>C (p.Glu1227Asp) (rs121917973)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723903 SCV000203502 uncertain significance not provided 2014-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000723903 SCV000242554 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCN1A gene. The E1238D variant has been reported multiple times previously in association with epilepsy; however, parental testing has not been reported, and one individual was also found to have a second SCN1A variant (Harkin et al., 2007; Zuberi et al., 2011; Kodera et al., 2013; SCN1A Variant Database). The E1238D variant is observed in 4/33104 (0.012%) alleles from individuals of Latino background (Lek et al., 2016). This substitution is predicted to be within the extracellular loop between the S1 and S2 transmembrane segments of the third homologous domain. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, the E1238D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000552471 SCV000633850 likely benign Early infantile epileptic encephalopathy 2018-01-05 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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