ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.751del (p.Ser251fs)

dbSNP: rs1586487826
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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 RCV000813660 SCV000954028 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2021-11-07 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: 657105). This premature translational stop signal has been observed in individual(s) with clinical features of myotonia congenita (PMID: 32721234). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser251Leufs*17) 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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