ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.898_899delinsTA (p.Arg300Ter)

dbSNP: rs1554436419
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518248 SCV000612802 pathogenic not provided 2015-10-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000638230 SCV000759716 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg300*) 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with autosomal recessive myotonia congenita (PMID: 7874130). ClinVar contains an entry for this variant (Variation ID: 447074). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000518248 SCV002512863 pathogenic not provided 2021-03-29 criteria provided, single submitter clinical testing Previously reported in two siblings with a classic Becker phenotype (myotonia congenita) who also harbored a second CLCN1 variant, however phase was not conclusively determined (Dupre et al., 2009); 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; Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 7874130, 18337100, 8533761)

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