ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.22192-14A>G

gnomAD frequency: 0.00003  dbSNP: rs1342297491
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002599161 SCV003496163 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-08-19 criteria provided, single submitter clinical testing 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 disrupt the consensus splice site. This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.002%). This sequence change falls in intron 120 of the SYNE1 gene. It does not directly change the encoded amino acid sequence of the SYNE1 protein.

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