Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000537094 | SCV000645235 | likely benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2022-07-11 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics Inc | RCV000992930 | SCV001145537 | uncertain significance | not provided | 2018-12-28 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002420466 | SCV002724261 | uncertain significance | Inborn genetic diseases | 2021-05-05 | criteria provided, single submitter | clinical testing | The p.N669Y variant (also known as c.2005A>T), located in coding exon 8 of the SETX gene, results from an A to T substitution at nucleotide position 2005. The asparagine at codon 669 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is not well 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 autosomal dominant juvenile amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of autosomal recessive spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain. |