Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003781082 | SCV004570118 | pathogenic | Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form | 2023-09-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ser617Glnfs*30) 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 individual(s) with myotonia congenita (PMID: 23739125). This variant is also known as p.V616VfsX31 (c.1847delT). For these reasons, this variant has been classified as Pathogenic. |