Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001531062 | SCV001746014 | pathogenic | not provided | 2021-05-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003771642 | SCV004569613 | pathogenic | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2023-03-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1175773). This premature translational stop signal has been observed in individual(s) with Becker disease (PMID: 24349310). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr257*) 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). |
Laboratory of Medical Genetics, |
RCV002267638 | SCV004697567 | pathogenic | Congenital myotonia, autosomal recessive form | 2024-02-20 | criteria provided, single submitter | clinical testing | |
Department of Neurology and Geriatrics, |
RCV002267638 | SCV002549788 | uncertain significance | Congenital myotonia, autosomal recessive form | 2022-04-06 | no assertion criteria provided | research |