Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV001288046 | SCV001474860 | pathogenic | not provided | 2022-07-28 | criteria provided, single submitter | clinical testing | This variant is expected to result in the loss of a functional protein. The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in multiple individuals with ataxia with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. This variant appears to segregate with disease in at least one family. This variant is also referred to as R2906X in published literature. |
Revvity Omics, |
RCV001288046 | SCV002018905 | pathogenic | not provided | 2021-05-19 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001288046 | SCV003936443 | pathogenic | not provided | 2023-06-30 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 27178001, 17159980, 30275942, 23959263, 33397523) |
OMIM | RCV000002417 | SCV000022575 | pathogenic | Autosomal recessive ataxia, Beauce type | 2007-01-01 | no assertion criteria provided | literature only |