ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.226-2dup

gnomAD frequency: 0.00013  dbSNP: rs774388631
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000346879 SCV000329596 likely pathogenic not provided 2023-02-10 criteria provided, single submitter clinical testing Reported in a patient with adult-onset ataxia and progressive myoclonus epilepsy in the published literature who also had a variant in another gene that may have been responsible for the phenotype (Muona et al., 2015); Canonical splice site variant predicted to result in a null allele in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25401298)
Eurofins Ntd Llc (ga) RCV000346879 SCV000343022 uncertain significance not provided 2016-07-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001059448 SCV001224072 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2023-08-24 criteria provided, single submitter clinical testing This sequence change falls in intron 4 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. 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. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). ClinVar contains an entry for this variant (Variation ID: 279936). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs774388631, gnomAD 0.02%).
Athena Diagnostics RCV000346879 SCV002771373 uncertain significance not provided 2021-07-29 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000346879 SCV003822803 uncertain significance not provided 2022-12-12 criteria provided, single submitter clinical testing
Service de Génétique Moléculaire, Hôpital Robert Debré RCV001270391 SCV001450674 likely pathogenic Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant; Arthrogryposis multiplex congenita 3, myogenic type 2020-03-23 no assertion criteria provided clinical testing

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