ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.17542-5G>A

dbSNP: rs776747142
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000553371 SCV000649069 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2021-08-25 criteria provided, single submitter clinical testing This sequence change falls in intron 91 of the SYNE1 gene. It does not directly change the encoded amino acid sequence of the SYNE1 protein. This variant is present in population databases (rs776747142, ExAC 0.006%). This variant has not been reported in the literature in individuals with SYNE1-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. 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.
Revvity Omics, Revvity RCV003139843 SCV003818163 uncertain significance not provided 2019-03-18 criteria provided, single submitter clinical testing

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