ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8647G>A (p.Val2883Ile) (rs369283016)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641313 SCV000762954 uncertain significance Nemaline myopathy 2 2019-12-18 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 2883 of the NEB protein (p.Val2883Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs369283016, ExAC 0.05%). 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.
Natera, Inc. RCV000641313 SCV001456993 uncertain significance Nemaline myopathy 2 2020-03-11 no assertion criteria provided clinical testing

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