Submissions for variant NM_000083.3(CLCN1):c.1925C>G (p.Ser642Ter)

dbSNP: rs1803112361

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001042853	SCV001206559	pathogenic	Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form	2022-09-06	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 840773). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser642*) 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).
Athena Diagnostics	RCV002473172	SCV002771245	pathogenic	not provided	2022-09-07	criteria provided, single submitter	clinical testing	This variant is expected to result in the loss of a functional protein. This variant has been identified in at least one individual with clinical features associated with this gene. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org).
Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand	RCV003327299	SCV004034132	pathogenic	Congenital myotonia, autosomal recessive form	2023-07-01	criteria provided, single submitter	research