Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000785021 | SCV000923573 | uncertain significance | Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2019-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002535712 | SCV003295091 | pathogenic | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2022-02-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 634525). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs199708211, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg31*) 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). |
Revvity Omics, |
RCV003141767 | SCV003827024 | uncertain significance | not provided | 2019-02-01 | criteria provided, single submitter | clinical testing |