Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000991826 | SCV001143599 | likely pathogenic | not provided | 2018-12-31 | criteria provided, single submitter | clinical testing | The variant results in a shift of the reading frame, and is therefore predicted to result in the loss of a functional protein. The best available variant frequency is uninformative because there are too few occurrences in population data. |
Invitae | RCV001247973 | SCV001421429 | pathogenic | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2019-01-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). This variant has not been reported in the literature in individuals with CLCN1-related conditions, however, a different variant (c.411C>G) giving rise to the same protein effect observed here (p.Tyr137*) has been reported in combination with another CLCN1 variant in a family affected with myotonia congenita (PMID: 18337730). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr137*) in the CLCN1 gene. It is expected to result in an absent or disrupted protein product. |
Gene |
RCV000991826 | SCV001829657 | pathogenic | not provided | 2019-04-15 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation 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); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29606556, 18337730) |