Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001311034 | SCV001501057 | pathogenic | not provided | 2021-10-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001311034 | SCV002104386 | pathogenic | not provided | 2023-07-05 | criteria provided, single submitter | clinical testing | In vitro assays demonstrated that A153D constructs transfected into HeLa cells formed misslocalized insoluble aggregates in the cytosol as compared to wild type (Dong et al., 2021); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32367058, 33210134, 33369814, 34819907, 36431311, 35419909, 36943151, 33875678, 33397963) |
3billion | RCV003152760 | SCV003842138 | pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.045%). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 33397963). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.66;). Same nucleotide change resulting in same amino acid change has been previously reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV001012846 / PMID: 32367058). The variant has been reported to co-segregate with the disease in at least one similarly affected relative/individual in the same family or similarly affected unrelated family (PMID: 32367058). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
Institute of Immunology and Genetics Kaiserslautern | RCV003152760 | SCV004803218 | pathogenic | Neuronopathy, distal hereditary motor, autosomal recessive 8 | 2024-03-06 | criteria provided, single submitter | clinical testing | ACMG Criteria: PS3, PM2_P, PM3, PP3, PP4, PP5; Variant was found in heterozygous state |