Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000713693 | SCV000844320 | pathogenic | not provided | 2018-08-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003768112 | SCV004577228 | pathogenic | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Val2969Glyfs*15) 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 (rs750544827, gnomAD 0.0009%). 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: 586747). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV003884713 | SCV004698071 | pathogenic | Autosomal recessive ataxia, Beauce type | 2024-02-19 | criteria provided, single submitter | clinical testing | Criteria applied: PVS1,PS4_SUP,PM2_SUP |