Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000688034 | SCV000815630 | pathogenic | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2022-12-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu840Valfs*31) in the CLCN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 149 amino acid(s) of the CLCN1 protein. This variant is present in population databases (rs780534566, gnomAD 0.005%). This premature translational stop signal has been observed in individual(s) with myotonia congenita (PMID: 12661046). ClinVar contains an entry for this variant (Variation ID: 567845). This variant disrupts a region of the CLCN1 protein in which other variant(s) (p.Arg894*) have been determined to be pathogenic (PMID: 8533761, 8845168, 11840191, 15162127, 18337730, 22094069, 22197187, 26096614, 27614575). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Athena Diagnostics | RCV002473106 | SCV002771093 | pathogenic | not provided | 2022-08-16 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000688034 | SCV005667258 | pathogenic | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2024-04-03 | criteria provided, single submitter | clinical testing |