ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1765G>A (p.Asp589Asn)

dbSNP: rs781481818
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002586871 SCV002948615 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-07-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 589 of the SCN1A protein (p.Asp589Asn). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is present in population databases (rs781481818, gnomAD 0.0009%).

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