ClinVar Miner

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

dbSNP: 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 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-12-19 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1694 of the SCN1A protein (p.Tyr1694Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with early infantile epileptic encephalopathy and generalized epilepsy with febrile seizures (PMID: 14738421, 19586930, 28202706). It has also been observed to segregate with disease in related individuals. This variant is also known as Tyr1684Cys. ClinVar contains an entry for this variant (Variation ID: 68650). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN1A protein function. For these reasons, this variant has been classified as Pathogenic.
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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