Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000194323 | SCV000249087 | pathogenic | Autosomal recessive ataxia, Beauce type | 2015-02-13 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003765237 | SCV004574067 | pathogenic | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2023-08-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln8289*) 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 premature translational stop signal has been observed in individual(s) with clinical features of SYNE1-related conditions (PMID: 29915382). ClinVar contains an entry for this variant (Variation ID: 212342). For these reasons, this variant has been classified as Pathogenic. |