ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.20245C>A (p.Gln6749Lys) (rs772854423)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000641314 SCV000762955 uncertain significance Nemaline myopathy 2 2017-11-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 6749 of the NEB protein (p.Gln6749Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs772854423, ExAC 0.005%). 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.
Fulgent Genetics,Fulgent Genetics RCV000641314 SCV000896831 uncertain significance Nemaline myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000839706 SCV000981610 likely benign not provided 2018-03-08 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.

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