Total submissions: 9
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000516701 | SCV000615196 | pathogenic | not provided | 2023-07-28 | 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 unrelated individuals with clinical features associated with this gene and appears to be associated with disease in at least one family. In multiple individuals, this variant has been seen with a single recessive pathogenic variant in the same gene, suggesting this variant may also be pathogenic. |
Kariminejad - |
RCV000850075 | SCV000992240 | pathogenic | Cerebellar ataxia | 2018-08-06 | criteria provided, single submitter | clinical testing | |
UM ALS/MND Lab, |
RCV001260555 | SCV001426210 | likely pathogenic | Amyotrophic lateral sclerosis | 2020-07-31 | criteria provided, single submitter | case-control | Allele frequency for the Glu1770Ilefs*15 variant in SETX was 0.000075 in ALS cases and 0 in controls within the Project MinE ALS case-control cohort, which favors evidence supporting our criteria to be classified as likely pathogenic |
Kariminejad - |
RCV001814179 | SCV001755541 | pathogenic | Abnormal central motor function | 2021-07-10 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002527525 | SCV003015658 | pathogenic | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu1770Ilefs*15) in the SETX gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SETX are known to be pathogenic (PMID: 14770181). This variant is present in population databases (rs750959420, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with autosomal recessive cerebellar ataxia (PMID: 18405395). ClinVar contains an entry for this variant (Variation ID: 448333). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000516701 | SCV003825568 | pathogenic | not provided | 2022-03-14 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000516701 | SCV003929762 | pathogenic | not provided | 2022-11-30 | criteria provided, single submitter | clinical testing | Frameshift 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; This variant is associated with the following publications: (PMID: 31589614, 31656689, 31493945, 18405395, 33624863, 29858556, 19696032, 30560021, 27528516) |
Genome- |
RCV000664235 | SCV003931336 | likely pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
RCV000664235 | SCV000787802 | pathogenic | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2018-04-25 | no assertion criteria provided | clinical testing |