ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8020G>A (p.Glu2674Lys) (rs369224273)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691357 SCV000819133 uncertain significance Nemaline myopathy 2 2018-07-31 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 2674 of the NEB protein (p.Glu2674Lys). The glutamic acid residue is moderately conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs369224273, ExAC 0.001%). This variant has been observed to segregate with long standing weakness in a family (Invitae). 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"; Align-GVGD: "Class C0"). 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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