ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.966G>A (p.Trp322Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003792282 SCV004588538 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-02-03 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp322*) 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). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this premature translational stop signal affects CLCN1 function (PMID: 33670307). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This premature translational stop signal has been observed in individuals with autosomal recessive Thomsen disease (PMID: 33670307). This variant has been reported in individual(s) with autosomal dominant Thomsen disease (PMID: 33670307); however, the role of the variant in this condition is currently unclear. This variant is present in population databases (no rsID available, gnomAD 0.003%).

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