ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.28G>C (p.Glu10Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001064359 SCV001229256 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with glutamine at codon 10 of the SYNE2 protein (p.Glu10Gln). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). 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: "Possibly 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.
