ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.789del (p.Ser264fs)

gnomAD frequency: 0.00001  dbSNP: rs770081373
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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 RCV000819385 SCV000960040 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-06-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 661869). This premature translational stop signal has been observed in individual(s) with myotonia congenita (PMID: 18337730). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs770081373, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ser264Leufs*4) 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).

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