ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.9796G>A (p.Val3266Met) (rs564504601)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692732 SCV000820571 uncertain significance Nemaline myopathy 2 2018-01-24 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 3266 of the NEB protein (p.Val3266Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs564504601, ExAC 0.01%). 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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