Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518348 | SCV000615215 | uncertain significance | not specified | 2017-06-06 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002404331 | SCV002669342 | uncertain significance | Inborn genetic diseases | 2022-02-28 | criteria provided, single submitter | clinical testing | The p.V2580I variant (also known as c.7738G>A), located in coding exon 24 of the SETX gene, results from a G to A substitution at nucleotide position 7738. The valine at codon 2580 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available 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 amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain. |
Genome- |
RCV003233696 | SCV003931611 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-02-08 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003233697 | SCV003931622 | likely benign | Amyotrophic lateral sclerosis type 4 | 2023-02-08 | criteria provided, single submitter | clinical testing |