ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11440A>G (p.Lys3814Glu) (rs1553897365)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551461 SCV000640502 uncertain significance Nemaline myopathy 2 2016-12-02 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 3814 of the NEB protein (p.Lys3814Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an NEB-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Unavailable"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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