Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000697571 | SCV000826191 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-12-14 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002334333 | SCV002641948 | uncertain significance | Inborn genetic diseases | 2020-06-23 | criteria provided, single submitter | clinical testing | The p.V1702I variant (also known as c.5104G>A), located in coding exon 8 of the SETX gene, results from a G to A substitution at nucleotide position 5104. The valine at codon 1702 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 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. |