ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.726T>A (p.Cys242Ter)

gnomAD frequency: 0.00004  dbSNP: rs757481015
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382410 SCV001581164 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-09-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1070309). This premature translational stop signal has been observed in individual(s) with autosomal recessive myotonia congenita (PMID: 17932099). This variant is present in population databases (rs757481015, gnomAD 0.03%), including at least one homozygous and/or hemizygous individual. This sequence change creates a premature translational stop signal (p.Cys242*) 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).
Revvity Omics, Revvity RCV001780315 SCV002022560 likely pathogenic not provided 2019-04-11 criteria provided, single submitter clinical testing
GeneDx RCV001780315 SCV003933229 likely pathogenic not provided 2024-01-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 25525159, 17932099)

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