Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001373070 | SCV001569772 | uncertain significance | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2024-01-03 | criteria provided, single submitter | clinical testing | This variant, c.1989_1994del, results in the deletion of 2 amino acid(s) of the SETX protein (p.Ile664_Glu665del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs773195802, gnomAD 0.05%). This variant has been observed in individual(s) with amyotrophic lateral sclerosis (PMID: 32729724). This variant is also known as c.1989_1994delTATAGA, p.663_665delTIEinsT. ClinVar contains an entry for this variant (Variation ID: 1063249). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Fulgent Genetics, |
RCV001373070 | SCV002781588 | uncertain significance | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2021-10-12 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003234057 | SCV003931524 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003234058 | SCV003931525 | uncertain significance | Amyotrophic lateral sclerosis type 4 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004037553 | SCV004948664 | uncertain significance | Inborn genetic diseases | 2023-10-23 | criteria provided, single submitter | clinical testing | Unlikely to be causative of SETX-related juvenile amyotrophic lateral sclerosis (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |