Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000992936 | SCV001145549 | likely benign | not provided | 2019-01-28 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001858762 | SCV002258270 | uncertain significance | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-01-26 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 805415). This variant has not been reported in the literature in individuals affected with SETX-related conditions. This variant is present in population databases (rs769558791, gnomAD 0.06%). This variant, c.4020_4022del, results in the deletion of 1 amino acid(s) of the SETX protein (p.Lys1341del), but otherwise preserves the integrity of the reading frame. |
| Ambry Genetics | RCV002354901 | SCV002620850 | uncertain significance | Inborn genetic diseases | 2020-03-11 | criteria provided, single submitter | clinical testing | The c.4020_4022delGAA variant (also known as p.K1341del) is located in coding exon 8 of the SETX gene. This variant results from an in-frame GAA deletion at nucleotide positions 4020 to 4022. This results in the in-frame deletion of a lysine at codon 1341. This amino acid position is highly conserved in available vertebrate species. Based on the supporting evidence, this variant is unlikely to be causative of autosomal dominant SETX-related juvenile amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of autosomal recessive SETX-related spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain. |
| Gene |
RCV000992936 | SCV004170381 | uncertain significance | not provided | 2023-10-19 | criteria provided, single submitter | clinical testing | In-frame deletion of 1 amino acids in a non-repeat region; In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |