ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2404-9G>A

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV003482656 SCV004229538 uncertain significance not provided 2023-09-11 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. This variant has not been reported in large, multi-ethnic general populations. (http://gnomad.broadinstitute.org) Computational tools yielded predictions that this variant may interfere with normal RNA splicing.
Labcorp Genetics (formerly Invitae), Labcorp RCV003779227 SCV004585418 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-27 criteria provided, single submitter clinical testing This sequence change falls in intron 20 of the CLCN1 gene. It does not directly change the encoded amino acid sequence of the CLCN1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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