Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Illumina Laboratory Services, |
RCV000297363 | SCV000467114 | likely benign | Batten-Turner congenital myopathy | 2017-04-27 | criteria provided, single submitter | clinical testing | This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign. |
| Gene |
RCV000481219 | SCV000568785 | uncertain significance | not provided | 2016-06-08 | criteria provided, single submitter | clinical testing | The A402V variant was previously reported in a patient with possible myotonia congenita (Fialho et al., 2007), and in two patients with a presumptive diagnosis of paroxysmal kinesigenic dyskinesia (Wang et al., 2016), however, functional studies were not completed in either publication. The A402V variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project; however, A402V was reported in the 1000 Genomes Project in 3/1008 (0.3%) alleles from individuals of East Asian background. The A402V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved in mammals, and missense variants in nearby residues (T398I; P408A) have been reported in the Human Gene Mutation Database in association with myotonia congenita (Stenson et al., 2014). In silico analysis predicts this variant is probably damaging to the protein structure/function. |
| Labcorp Genetics |
RCV001078695 | SCV000759745 | likely benign | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2024-01-30 | criteria provided, single submitter | clinical testing | |
| Athena Diagnostics | RCV000481219 | SCV001143589 | uncertain significance | not provided | 2019-08-02 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000481219 | SCV003830772 | uncertain significance | not provided | 2021-05-06 | criteria provided, single submitter | clinical testing |