ClinVar Miner

Submissions for variant NM_000399.5(EGR2):c.897AGC[6] (p.Ala309dup) (rs746688326)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482970 SCV000566550 likely benign not specified 2015-05-18 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 RCV000545083 SCV000636233 uncertain significance Charcot-Marie-Tooth disease, type I 2019-10-21 criteria provided, single submitter clinical testing This variant, c.909_911dupAGC, results in the insertion of 1 amino acid to the EGR2 protein (p.Ala309dup), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs746688326, ExAC 0.02%). This variant has not been reported in the literature in individuals with EGR2-related disease. ClinVar contains an entry for this variant (Variation ID: 419028). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acid is currently unknown. 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.
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173235 SCV001336316 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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