Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000644822 | SCV000766537 | likely benign | Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 2023-11-28 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics | RCV001644729 | SCV000843820 | likely benign | not specified | 2021-02-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002369707 | SCV002690551 | uncertain significance | Inborn genetic diseases | 2022-12-02 | criteria provided, single submitter | clinical testing | Unlikely to be causative of SETX-related juvenile amyotrophic lateral sclerosis (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Ce |
RCV003424222 | SCV004156619 | uncertain significance | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | SETX: PM2 |
Gene |
RCV003424222 | SCV004170727 | uncertain significance | not provided | 2023-11-02 | criteria provided, single submitter | clinical testing | Previously reported in an individual with apparently sporadic ALS, who also harbored a variant in a different gene associated with ALS (PMID: 25382069); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25869998, 29605155, 25382069) |
Mayo Clinic Laboratories, |
RCV003424222 | SCV005410859 | uncertain significance | not provided | 2024-05-07 | criteria provided, single submitter | clinical testing | BP4, PM2_moderate |
Prevention |
RCV004732984 | SCV005351305 | uncertain significance | SETX-related disorder | 2024-09-21 | no assertion criteria provided | clinical testing | The SETX c.968G>A variant is predicted to result in the amino acid substitution p.Ser323Asn. This variant was reported in two individuals with amyotrophic lateral sclerosis, with one individual also harboring a missense variant in DCTN1 (Cady et al. 2015. PubMed ID: 25382069, Table 2 and Table 4). This variant is reported in 0.039% of alleles in individuals of European (Non-Finnish) descent in gnomAD and has conflicting interpretations of pathogenicity in ClinVar ranging from likely benign to uncertain significance (http://www.ncbi.nlm.nih.gov/clinvar/variation/536383/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |