ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.949C>T (p.Arg317Ter)

dbSNP: rs1337473924
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518686 SCV000612808 pathogenic not provided 2014-01-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001390938 SCV001592841 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2023-12-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg317*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with myotonia congenita (PMID: 19949657). ClinVar contains an entry for this variant (Variation ID: 447077). 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.
Revvity Omics, Revvity RCV000518686 SCV002019328 pathogenic not provided 2021-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001390938 SCV005667227 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-03-07 criteria provided, single submitter clinical testing

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