Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092181 | SCV001248567 | pathogenic | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | ATP1A2: PM6:Strong, PM1, PM2, PS4:Moderate, PP3, PP4 |
Athena Diagnostics Inc | RCV001092181 | SCV001476161 | pathogenic | not provided | 2019-12-31 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. One other pathogenic or likely pathogenic variant affects the same amino acid. One de novo case with parental identity confirmed and one de novo case with parental identity not confirmed. |
Ambry Genetics | RCV002444756 | SCV002734291 | likely pathogenic | Inborn genetic diseases | 2019-04-04 | criteria provided, single submitter | clinical testing | The p.T364M variant (also known as c.1091C>T), located in coding exon 9 of the ATP1A2 gene, results from a C to T substitution at nucleotide position 1091. The threonine at codon 364 is replaced by methionine, an amino acid with similar properties. This variant was identified in 2 individuals with hemiplegic migraines, including a de novo case (Toldo I et al. Cephalalgia, 2011 Apr;31:751-6; Martínez E et al. Case Rep Neurol Med, 2016 Oct;2016:3464285). This variant also occurred de novo in a child with autism, abnormal hair and nail growth, episodes of arm movement and loss of awareness, and one episode of right sided weakness and non-fluent aphasia with left cranial headache (Benke PJ et al. Pediatr. Neurol., 2018 02;79:61-64). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the majority of available evidence to date, this variant is likely to be pathogenic. |
Baylor Genetics | RCV003147390 | SCV003835961 | pathogenic | Migraine, familial hemiplegic, 2 | 2022-11-13 | criteria provided, single submitter | clinical testing | |
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001092181 | SCV001955657 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Clinical Genetics DNA and cytogenetics Diagnostics Lab, |
RCV001092181 | SCV001975408 | uncertain significance | not provided | no assertion criteria provided | clinical testing |