ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.2987T>C (p.Ile996Thr) (rs753691207)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000685604 SCV000813089 uncertain significance Nemaline myopathy 2 2018-05-08 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 996 of the NEB protein (p.Ile996Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs753691207, ExAC 0.006%). 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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