ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2518_2519del (p.Leu840fs)

gnomAD frequency: 0.00003  dbSNP: rs780534566
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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 RCV000688034 SCV000815630 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-12-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CLCN1 protein in which other variant(s) (p.Arg894*) have been determined to be pathogenic (PMID: 8533761, 8845168, 11840191, 15162127, 18337730, 22094069, 22197187, 26096614, 27614575). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 567845). This premature translational stop signal has been observed in individual(s) with myotonia congenita (PMID: 12661046). This variant is present in population databases (rs780534566, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Leu840Valfs*31) in the CLCN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 149 amino acid(s) of the CLCN1 protein.
Athena Diagnostics RCV002473106 SCV002771093 pathogenic not provided 2022-08-16 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000688034 SCV005667258 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-04-03 criteria provided, single submitter clinical testing

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