ClinVar Miner

Submissions for variant NM_182914.2(SYNE2):c.16717C>T (p.Arg5573Trp) (rs138323662)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000593729 SCV000706346 uncertain significance not provided 2017-02-08 criteria provided, single submitter clinical testing
Invitae RCV000647529 SCV000769325 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2017-11-13 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 5573 of the SYNE2 protein (p.Arg5573Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs138323662, ExAC 0.003%). This variant has not been reported in the literature in individuals with SYNE2-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: "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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