Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Unit for Genetic & Epidemiological Research on Neurological Disorders, |
RCV000515888 | SCV000574446 | pathogenic | Hereditary spastic paraplegia | 2017-03-07 | criteria provided, single submitter | research | |
SIB Swiss Institute of Bioinformatics | RCV000034374 | SCV000930082 | likely pathogenic | Hereditary spastic paraplegia 46 | 2019-01-25 | criteria provided, single submitter | curation | This variant is interpreted as a Likely pathogenic for Spastic paraplegia 46, autosomal recessive. The following ACMG Tag(s) were applied: PM2 : Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PS3-Moderate : Functional evidence PS3 downgraded in strength to Moderate (PMID:26220345). PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:23332917). PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. |
OMIM | RCV000034374 | SCV000058358 | pathogenic | Hereditary spastic paraplegia 46 | 2013-02-07 | no assertion criteria provided | literature only |