Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002450385 | SCV002733803 | uncertain significance | Inborn genetic diseases | 2022-06-15 | criteria provided, single submitter | clinical testing | The p.I81V variant (also known as c.241A>G), located in coding exon 2 of the SETX gene, results from an A to G substitution at nucleotide position 241. The isoleucine at codon 81 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species, and valine is the reference amino acid in other vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the supporting evidence, this variant is unlikely to be causative of juvenile amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain. |
| Athena Diagnostics | RCV003482412 | SCV004230029 | uncertain significance | not provided | 2023-07-11 | criteria provided, single submitter | clinical testing | Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging. |
| Labcorp Genetics |
RCV003775239 | SCV004573497 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-07-06 | criteria provided, single submitter | clinical testing |