Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV001288029 | SCV001474828 | pathogenic | not provided | 2019-09-24 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. Found in at least one patient with expected phenotype for this gene. |
| Revvity Omics, |
RCV001288029 | SCV003819798 | pathogenic | not provided | 2022-12-22 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV005225352 | SCV005865313 | pathogenic | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2024-06-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg655Serfs*22) 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). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive spinocerebellar ataxia (PMID: 31743419, 34284285). ClinVar contains an entry for this variant (Variation ID: 994521). For these reasons, this variant has been classified as Pathogenic. |