ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.6723+1G>C

gnomAD frequency: 0.00001  dbSNP: rs779302145
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001041499 SCV001205120 likely pathogenic Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2019-03-07 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 27086870). This variant has not been reported in the literature in individuals with SYNE1-related conditions. This variant is present in population databases (rs779302145, ExAC 0.001%). This sequence change affects a donor splice site in intron 45 of the SYNE1 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.

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