Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001206224 | SCV001377521 | pathogenic | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-02-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln2770*) 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 not present in population databases (gnomAD no frequency). 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: 937252). For these reasons, this variant has been classified as Pathogenic. |
| Revvity Omics, |
RCV001780115 | SCV002016835 | likely pathogenic | not provided | 2022-06-20 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV001780115 | SCV002771399 | likely pathogenic | not provided | 2021-10-29 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). |