Total submissions: 8
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000517441 | SCV000615171 | uncertain significance | not specified | 2017-04-19 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000644833 | SCV000766548 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-12-20 | criteria provided, single submitter | clinical testing | |
| Ce |
RCV001311797 | SCV001502111 | likely benign | not provided | 2024-01-01 | criteria provided, single submitter | clinical testing | SETX: BP4 |
| Mayo Clinic Laboratories, |
RCV001311797 | SCV001716044 | uncertain significance | not provided | 2020-07-14 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002438247 | SCV002753367 | uncertain significance | Inborn genetic diseases | 2021-07-23 | criteria provided, single submitter | clinical testing | The p.G1006R variant (also known as c.3016G>A), located in coding exon 8 of the SETX gene, results from a G to A substitution at nucleotide position 3016. The glycine at codon 1006 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species, and arginine is the reference amino acid in other 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 juvenile amyotrophic lateral sclerosis 4 (ALS4); however, its contribution to the development of spinocerebellar ataxia with axonal neuropathy 2 (SCAN2) is uncertain. |
| Fulgent Genetics, |
RCV000644833 | SCV002796351 | uncertain significance | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2022-01-12 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV001311797 | SCV003827519 | uncertain significance | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | |
| Victorian Clinical Genetics Services, |
RCV004787827 | SCV005398579 | uncertain significance | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2020-06-11 | criteria provided, single submitter | clinical testing | Based on the classification scheme VCGS_Germline_v1.1.1, this variant is classified as 3C-VUS. Following criteria are met: 0102 - Loss-of-function is a known mechanism of disease for this gene. (N) 0105 - The mechanism of disease for this gene is not clearly established. (N) 0108 - This gene is known to be associated with both recessive and dominant disease. The dominant condition is associated with missense variants only, while the recessive condition is associated with both null and missense variants, with the latter clustered in the N-terminal or helicase domains (PMID: 23129421). (N) 0200 - Variant is predicted to result in a missense amino acid change from a glycine to an arginine (exon 10). (N) 0251 - Variant is heterozygous. (N) 0304 - Variant is present in gnomAD <0.01 for a recessive condition (28 heterozygotes, 0 homozygotes). (P) 0504 - Same amino acid change has been observed in mammals. (B) 0604 - Variant is not located in an established domain, motif, hotspot or informative constraint region. (N) 0705 - No comparable variants have previous evidence for pathogenicity. (N) 0804 - Variant is in the population at a low frequency and has previously been described as variant of uncertain significance in multiple independent cases for both phenotypes (ClinVar). (N) 0905 - No segregation evidence has been identified for this variant. (N) 1007 - No published functional evidence has been identified for this variant. (N) 1208 - Inheritance information for this variant is not currently available. (N) Legend: (P) - Pathogenic, (N) - Neutral, (B) - Benign |