Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000644809 | SCV000766524 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-05-16 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002422333 | SCV002727152 | uncertain significance | Inborn genetic diseases | 2019-09-20 | criteria provided, single submitter | clinical testing | The p.I70V variant (also known as c.208A>G), located in coding exon 2 of the SETX gene, results from an A to G substitution at nucleotide position 208. The isoleucine at codon 70 is replaced by valine, an amino acid with highly similar 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. |
Preventiongenetics, |
RCV003403488 | SCV004120280 | uncertain significance | SETX-related condition | 2023-06-09 | criteria provided, single submitter | clinical testing | The SETX c.208A>G variant is predicted to result in the amino acid substitution p.Ile70Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.080% of alleles in individuals of Ashkenazi Jewish descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-135221828-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |