ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3284A>G (p.Tyr1095Cys)

dbSNP: rs1188507636
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001238847 SCV001411678 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-09-06 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 964594). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 1095 of the SCN1A protein (p.Tyr1095Cys).

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