ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.302-1G>A

dbSNP: rs529377088
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000700752 SCV000829522 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-24 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 2 of the CLCN1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CLCN1 are known to be pathogenic (PMID: 17932099, 22094069, 23739125). This variant is present in population databases (rs529377088, gnomAD 0.003%). Disruption of this splice site has been observed in individuals with autosomal recessive myotonia congenita (PMID: 18337730, 22094069, 23739125; Invitae). ClinVar contains an entry for this variant (Variation ID: 577893). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV002289981 SCV002581818 pathogenic Congenital myotonia, autosomal recessive form 2022-08-24 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV003489824 SCV004234941 pathogenic not provided 2023-02-10 criteria provided, single submitter clinical testing

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