Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Clinical Genetics Laboratory, |
RCV000488375 | SCV005197517 | likely pathogenic | not provided | 2022-07-13 | criteria provided, single submitter | clinical testing | |
| MGZ Medical Genetics Center | RCV001030775 | SCV002580988 | pathogenic | Congenital myotonia, autosomal recessive form | 2022-06-29 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000701179 | SCV000829965 | pathogenic | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2024-11-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg338*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with autosomal recessive myotonia congenita (PMID: 22521272, 24452722, 27118449). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 425428). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Ce |
RCV000488375 | SCV000575537 | likely pathogenic | not provided | 2016-11-01 | criteria provided, single submitter | clinical testing | |
| Section for Clinical Neurogenetics, |
RCV001030775 | SCV001156082 | pathogenic | Congenital myotonia, autosomal recessive form | 2019-08-01 | no assertion criteria provided | research |