ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) (rs121918777)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465483 SCV000548781 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2018-10-10 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1694 of the SCN1A protein (p.Tyr1694Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with early infantile epileptic encephalopathy and segregates with generalized epilepsy with febrile seizures in families (PMID: 14738421, 19586930, 28202706). This variant is also referred to as p.Tyr1684Cys in the literature. ClinVar contains an entry for this variant (Variation ID: 68650). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genetic Services Laboratory, University of Chicago RCV000501085 SCV000596949 uncertain significance not specified 2016-03-29 criteria provided, single submitter clinical testing
UniProtKB/Swiss-Prot RCV000059530 SCV000091061 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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