ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.5112C>G (p.Ile1704Met) (rs1559104174)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707014 SCV000836091 uncertain significance Early infantile epileptic encephalopathy 2018-08-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 1715 of the SCN1A protein (p.Ile1715Met). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1A-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C0"). This variant identified in the SCN1A gene is located in the extracellular D4-S5/S6 region of the resulting protein (PMID: 25348405, 18804930), but it is unclear how this variant impacts the function of this protein. 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.

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