ClinVar Miner

Submissions for variant NM_000083.3(CLCN1):c.220C>T (p.Gln74Ter)

dbSNP: rs1554434400
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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 RCV001386447 SCV001586675 pathogenic Congenital myotonia, autosomal recessive form; Congenital myotonia, autosomal dominant form 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln74*) 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 individuals with autosomal recessive Becker-type myotonia (PMID: 8571958, 24349310). ClinVar contains an entry for this variant (Variation ID: 462829). 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 RCV000541514 SCV002578907 pathogenic Congenital myotonia, autosomal recessive form 2021-11-23 criteria provided, single submitter clinical testing

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