Total submissions: 8
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000794428 | SCV000933834 | benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-12-01 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV000143814 | SCV001145536 | uncertain significance | not provided | 2018-09-12 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000143814 | SCV002032571 | uncertain significance | not provided | 2021-12-07 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Identified in a patient with amyotrophic lateral sclerosis in published literature, although additional clinical information and familial segregation information were not included (Cady et al., 2015); This variant is associated with the following publications: (PMID: 33333218, 25382069) |
Ambry Genetics | RCV002408640 | SCV002723162 | uncertain significance | Inborn genetic diseases | 2021-04-23 | criteria provided, single submitter | clinical testing | The p.E623D variant (also known as c.1869A>C), located in coding exon 8 of the SETX gene, results from an A to C substitution at nucleotide position 1869. The glutamic acid at codon 623 is replaced by aspartic acid, an amino acid with highly similar properties. Among a cohort of 391 patients with amyotrophic lateral sclerosis (ALS), this alteration was reported in one patient with sporadic ALS but was also present in population databases (Cady J et al. Ann Neurol, 2015 Jan;77:100-13). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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. |
Ce |
RCV000143814 | SCV004811701 | uncertain significance | not provided | 2024-03-01 | criteria provided, single submitter | clinical testing | |
Breakthrough Genomics, |
RCV000143814 | SCV005190544 | uncertain significance | not provided | criteria provided, single submitter | not provided | ||
Northcott Neuroscience Laboratory, |
RCV000143814 | SCV000188707 | non-pathogenic | not provided | no assertion criteria provided | not provided | Converted during submission to Benign. | |
Prevention |
RCV004544322 | SCV004768627 | uncertain significance | SETX-related disorder | 2024-04-04 | no assertion criteria provided | clinical testing | The SETX c.1869A>C variant is predicted to result in the amino acid substitution p.Glu623Asp. This variant was reported in one individual with amyotrophic lateral sclerosis (Table 2, Cady et al. 2015. PubMed ID: 25382069). This variant is reported in 0.024% of alleles in individuals of European (non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |