Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493462 | SCV000581928 | likely pathogenic | not provided | 2020-01-06 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic [(Stenson et al., 2014; other references)]; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30744660) |
Institute of Human Genetics, |
RCV000767444 | SCV000898059 | likely pathogenic | Tubulinopathy | 2018-07-01 | criteria provided, single submitter | literature only | A variant that is classified as likely pathogenic has been identified in the TUBA1A gene in a born individual of unknown sex. The c.1091C>G, p.(Pro364Arg) variant has been reported as a variant of germline/unknown origin. |