ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)

gnomAD frequency: 0.00002  dbSNP: rs769419654
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV002475126 SCV002771372 likely pathogenic not provided 2021-07-30 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org).
Labcorp Genetics (formerly Invitae), Labcorp RCV002574704 SCV003485162 pathogenic Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2024-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg4693*) in the SYNE1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SYNE1 are known to be pathogenic (PMID: 19542096, 24319099, 27086870). This variant is present in population databases (rs769419654, gnomAD 0.004%). 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: 1807169). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV002475126 SCV005413760 likely pathogenic not provided 2024-09-16 criteria provided, single submitter clinical testing PM2, PVS1

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