Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000256148 | SCV000322274 | pathogenic | not provided | 2019-08-15 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 24704353, 25525159, 20974584, 18056581, 27445835) |
Invitae | RCV001348307 | SCV001542605 | pathogenic | Familial hemiplegic migraine | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg834*) in the ATP1A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATP1A2 are known to be pathogenic (PMID: 30690204). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been observed in the literature in individuals with autosomal recessive ATP1A2-related conditions. This variant has been reported in individual(s) with autosomal dominant familial hemiplegic migraine (PMID: 18056581); however, the role of the variant in this condition is currently unclear. ClinVar contains an entry for this variant (Variation ID: 265408). For these reasons, this variant has been classified as Pathogenic. |
Institute of Human Genetics, |
RCV003454779 | SCV004177274 | uncertain significance | Migraine, familial hemiplegic, 2 | criteria provided, single submitter | not provided |