ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.562C>T (p.Arg188Trp) (rs121917748)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048768 SCV001212788 uncertain significance Benign familial neonatal-infantile seizures; Early infantile epileptic encephalopathy 11 2020-01-05 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 188 of the SCN2A protein (p.Arg188Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs121917748, ExAC 0.005%). This variant has been observed in individual(s) with febrile seizures associated with afebrile seizures (PMID: 11371648, 15301839). ClinVar contains an entry for this variant (Variation ID: 12875). This variant has been reported to affect SCN2A protein function (PMID: 11371648). 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 RCV000013735 SCV000033982 pathogenic Benign familial neonatal-infantile seizures 2004-04-01 no assertion criteria provided literature only

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