ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.22075A>C (p.Lys7359Gln) (rs756646859)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000704917 SCV000833890 uncertain significance Nemaline myopathy 2 2018-06-11 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamine at codon 7359 of the NEB protein (p.Lys7359Gln). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamine. This variant is present in population databases (rs756646859, ExAC 0.06%). This variant has not been reported in the literature in individuals with 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"; 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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