Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
SIB Swiss Institute of Bioinformatics | RCV000755734 | SCV000883237 | likely pathogenic | Spinocerebellar ataxia 47 | 2018-10-15 | criteria provided, single submitter | curation | This variant is interpreted as Likely Pathogenic, for Spinocerebellar ataxia 47, autosomal dominant. 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. PP1 => Cosegregation with disease in multiple affected family members in a gene definitively known to cause the disease (https://www.ncbi.nlm.nih.gov/pubmed/29474920). PS3 => Well-established functional studies show a deleterious effect PUM1 (https://www.ncbi.nlm.nih.gov/pubmed/29474920). |
Gene |
RCV001786417 | SCV002028420 | likely pathogenic | not provided | 2021-06-15 | criteria provided, single submitter | clinical testing | Published functional studies suggest a damaging effect: inability to suppress ATNX1 and E2F3 (Gennarino et al., 2018); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 30284037, 30316580, 33397688, 33163565, 29474920) |
OMIM | RCV000755734 | SCV000747048 | pathogenic | Spinocerebellar ataxia 47 | 2021-01-27 | no assertion criteria provided | literature only |