ClinVar Miner

Submissions for variant NM_182914.2(SYNE2):c.3408G>T (p.Arg1136Ser) (rs762347655)

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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 RCV000406608 SCV000335103 uncertain significance not provided 2015-09-17 criteria provided, single submitter clinical testing
Invitae RCV000549509 SCV000648937 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2018-10-24 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 1136 of the SYNE2 protein (p.Arg1136Ser). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs762347655, ExAC 0.03%). This variant has not been reported in the literature in individuals with a SYNE2-related disease. ClinVar contains an entry for this variant (Variation ID: 283167). 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: "Benign"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on SYNE2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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