ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4265A>G (p.Tyr1422Cys) (rs121917913)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001048734 SCV001212753 uncertain significance Early infantile epileptic encephalopathy 2019-12-03 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1422 of the SCN1A protein (p.Tyr1422Cys). 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 individual(s) with clinical features of severe myoclonic epilepsy in infancy (PMID: 17054684). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 68540). 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.
UniProtKB/Swiss-Prot RCV000059414 SCV000090938 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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