ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.12247C>T (p.Arg4083Cys) (rs368383341)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000117724 SCV000151972 uncertain significance not provided 2013-12-23 criteria provided, single submitter clinical testing
Invitae RCV000811159 SCV000951412 uncertain significance Nemaline myopathy 2 2019-11-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 4083 of the NEB protein (p.Arg4083Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs368383341, ExAC 0.02%). This variant has not been reported in the literature in individuals with NEB-related disease. ClinVar contains an entry for this variant (Variation ID: 129709). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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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