Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000077800 | SCV000930087 | 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 : Well-established functional studies show a deleterious effect (PMID:26220345,30308956). PP1 : Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (PMID:24252062). PP3 : Multiple lines of computational evidence support a deleterious effect on the gene or gene product. |
OMIM | RCV000077800 | SCV000109634 | pathogenic | Hereditary spastic paraplegia 46 | 2014-01-01 | no assertion criteria provided | literature only |