ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.6011G>A (p.Gly2004Glu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044335 SCV001208126 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-05-02 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 2004 of the SYNE2 protein (p.Gly2004Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is present in population databases (rs771507854, ExAC 0.1%), and has an allele count higher than expected for a pathogenic variant (PMID: 28166811). This variant has not been reported in the literature in individuals with SYNE2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; 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.

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