ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.21056G>A (p.Arg7019His)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001241259 SCV001414265 uncertain significance Nemaline myopathy 2 2019-06-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 7019 of the NEB protein (p.Arg7019His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs377443184, ExAC 0.03%). 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"; PolyPhen-2: "Not Available"; 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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