ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.6299G>A (p.Arg2100Gln) (rs752836728)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000554577 SCV000640843 uncertain significance Nemaline myopathy 2 2016-08-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 2100 of the NEB protein (p.Arg2100Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs752836728, ExAC 0.02%) but has not been reported in the literature in individuals with a 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: "Unavailable"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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