ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.3669+4C>G

gnomAD frequency: 0.00021  dbSNP: rs376511242
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000118480 SCV000152886 likely benign not specified 2013-08-26 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000726269 SCV000343320 uncertain significance not provided 2016-06-27 criteria provided, single submitter clinical testing
Invitae RCV000536058 SCV000649168 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-01-17 criteria provided, single submitter clinical testing This sequence change falls in intron 29 of the SYNE1 gene. It does not directly change the encoded amino acid sequence of the SYNE1 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs376511242, gnomAD 0.06%). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. ClinVar contains an entry for this variant (Variation ID: 130440). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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.
Athena Diagnostics Inc RCV000726269 SCV002771361 uncertain significance not provided 2021-06-24 criteria provided, single submitter clinical testing

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