Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000647649 | SCV000769447 | uncertain significance | Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 2021-08-30 | criteria provided, single submitter | clinical testing | |
Illumina Laboratory Services, |
RCV002260515 | SCV002540262 | uncertain significance | Autosomal recessive ataxia, Beauce type | 2022-01-21 | criteria provided, single submitter | clinical testing | The SYNE1 c.13751T>A (p.Val4584Asp) missense variant results in the substitution of valine at amino acid position 13751 with aspartic acid. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is reported in the Genome Aggregation Database in one allele at a frequency of 0.000009 in the European (non-Finnish) population (version 2.1.1). Based on the available evidence, the c.13751T>A (p.Val4584Asp) variant is classified as a variant of uncertain significance for SYNE1-related cerebellar ataxia. |