ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.8849A>C (p.Glu2950Ala)

gnomAD frequency: 0.00003  dbSNP: rs540706990
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539280 SCV000648985 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2017-07-19 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with alanine at codon 2950 of the SYNE2 protein (p.Glu2950Ala). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and alanine. This variant is present in population databases (rs540706990, ExAC 0.03%). 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: "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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