Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000519943 | SCV000618260 | likely pathogenic | not provided | 2017-07-07 | criteria provided, single submitter | clinical testing | The R6979X variant has been previously reported in an individual with cerebellar ataxia who harbored an additional SYNE1 nonsense variant (Synofzik et al., 2016). The R6979X variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense mediated mRNA decay. |
Kariminejad - |
RCV001814183 | SCV001755478 | pathogenic | Abnormal central motor function | 2021-07-10 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000787307 | SCV000926244 | pathogenic | Autosomal recessive ataxia, Beauce type | 2019-07-11 | no assertion criteria provided | literature only |