ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile) (rs121918629)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001296128 SCV001485084 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2020-03-10 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1709 of the SCN1A protein (p.Thr1709Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with generalized epilepsy with febrile seizures plus (GEFS+) or Dravet syndrome (PMID: 12566275, 15277629). ClinVar contains an entry for this variant (Variation ID: 12894). This variant has been reported to affect SCN1A protein function (PMID: 16210358). This variant disrupts the p.Thr1709 amino acid residue in SCN1A. Other variant(s) that disrupt this residue have been observed in individuals with SCN1A-related conditions (PMID: 28202706), which suggests that this may be a clinically significant amino acid residue. 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.
OMIM RCV000013754 SCV000034001 pathogenic Severe myoclonic epilepsy in infancy 2003-03-01 no assertion criteria provided literature only
OMIM RCV000013755 SCV000034002 pathogenic Generalized epilepsy with febrile seizures plus, type 2 2003-03-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000013754 SCV000091062 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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