ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.8598C>G (p.Asp2866Glu) (rs1553966356)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000616454 SCV000726510 likely benign not specified 2018-01-15 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000704383 SCV000833330 uncertain significance Nemaline myopathy 2 2018-02-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glutamic acid at codon 2866 of the NEB protein (p.Asp2866Glu). The aspartic acid residue is moderately conserved and there is a small physicochemical difference between aspartic acid and glutamic acid. This variant is not present in population databases (ExAC no frequency). 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. RCV000704383 SCV001465082 uncertain significance Nemaline myopathy 2 2020-08-28 no assertion criteria provided clinical testing

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