ClinVar Miner

Submissions for variant NM_182914.2(SYNE2):c.13020_13023+12delinsGATCT (rs1555495562)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000559717 SCV000648829 uncertain significance Emery-Dreifuss muscular dystrophy 5, autosomal dominant 2017-05-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp4340Glufs*23) in the SYNE2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a SYNE2-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SYNE2 cause disease. 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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