ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2173-3C>G

dbSNP: rs1169171168
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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 RCV001367182 SCV001563525 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2020-04-10 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 17 of the CLCN1 gene. It does not directly change the encoded amino acid sequence of the CLCN1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant has been observed in individual(s) with clinical features of myotonia congenita (Invitae). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies.

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