ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.11683A>G (p.Arg3895Gly) (rs1015014078)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539045 SCV000640507 uncertain significance Nemaline myopathy 2 2017-11-08 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 3895 of the NEB protein (p.Arg3895Gly). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency) and 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: "not available"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV000539045 SCV001461929 uncertain significance Nemaline myopathy 2 2019-11-11 no assertion criteria provided clinical testing

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