ClinVar Miner

Submissions for variant NM_182914.3(SYNE2):c.8171A>T (p.Glu2724Val)

gnomAD frequency: 0.00001  dbSNP: rs759977701
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001062848 SCV001227671 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2020-01-24 criteria provided, single submitter clinical testing This variant is present in population databases (rs759977701, ExAC 0.003%). This sequence change replaces glutamic acid with valine at codon 2724 of the SYNE2 protein (p.Glu2724Val). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant has not been reported in the literature in individuals with SYNE2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0").
Revvity Omics, Revvity RCV001062848 SCV003820878 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2019-01-15 criteria provided, single submitter clinical testing

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