Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000518160 | SCV000612773 | pathogenic | not provided | 2014-03-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000638229 | SCV000759715 | pathogenic | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg626*) in the CLCN1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). This variant is present in population databases (rs201894078, gnomAD 0.003%). This premature translational stop signal has been observed in individuals with non-dystrophic myotonia (PMID: 23113340). ClinVar contains an entry for this variant (Variation ID: 447058). For these reasons, this variant has been classified as Pathogenic. |
Revvity Omics, |
RCV000518160 | SCV002019335 | pathogenic | not provided | 2021-10-05 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000518160 | SCV004023003 | pathogenic | not provided | 2023-07-27 | criteria provided, single submitter | clinical testing | Observed in the heterozygous state in a patient with non-dystrophic myotonia in published literature (Lau et al., 2019); 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 significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32660787, 10619717, 23113340, 31069529, 34790634) |