ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.2172+3G>A

gnomAD frequency: 0.00019  dbSNP: rs758964825
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000810853 SCV000951090 uncertain significance Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2022-10-25 criteria provided, single submitter clinical testing 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. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs758964825, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. ClinVar contains an entry for this variant (Variation ID: 654816). Variants that disrupt 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 is not likely to affect RNA splicing. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689892 SCV005184570 uncertain significance not specified 2024-05-26 criteria provided, single submitter clinical testing

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