Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000761685 | SCV000891861 | likely pathogenic | not provided | 2019-09-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000761685 | SCV001824484 | likely pathogenic | not provided | 2019-11-04 | criteria provided, single submitter | clinical testing | Reported in large family with familial hemiplegic migraine (FHM) and benign familial infantile seizures (BFIS) and originally reported to be responsible for both disorders; however, a variant in the PRRT2 gene is now thought to cause the BFIC phenotype (Vanmolkot et al., 2003; Pelzer et al., 2014); Published in vitro functional studies demonstrate that R689Q causes decrease in catalytic turnover and increase in apparent affinity for K(+) (Segall et al., 2005); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 15115644, 24928127, 12953268, 16037212) |
OMIM | RCV000013783 | SCV000034030 | pathogenic | Migraine, familial hemiplegic, 2 | 2014-07-15 | no assertion criteria provided | literature only |