ClinVar Genomic variation as it relates to human health
NM_000083.3:c.[742A>T];[2680C>T]
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
NM_000083.3:c.[742A>T];[2680C>T]
- Other names
- -
- Functional consequence
- -
- Links
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Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
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Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
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| HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
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The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
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The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
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| CLCN1 | - | - |
GRCh38 GRCh37 |
1395 | 1547 | |
Conditions - Germline
| Condition
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The condition for this variant-condition (RCV) record in ClinVar. |
Classification
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The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
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The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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| Pathogenic (1) |
criteria provided, single submitter
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Nov 30, 2023 | RCV004515784.2 |
Submissions - Germline
| Classification
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The submitted germline classification for each SCV record. (Last evaluated) |
Review status
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Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
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The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
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The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
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This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
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Pathogenic
(Nov 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
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Congenital myotonia, autosomal recessive form
Affected status: yes
Allele origin:
germline
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Equipe Genetique des Anomalies du Developpement, Université de Bourgogne
Accession: SCV005016491.1
First in ClinVar: May 01, 2024 Last updated: May 01, 2024 |
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Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. | Mahungu AC | Frontiers in neurology | 2023 | PMID: 37712079 |
| NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly. | Pomarino D | Global medical genetics | 2023 | PMID: 37091313 |
| Translating genetic and functional data into clinical practice: a series of 223 families with myotonia. | Suetterlin K | Brain : a journal of neurology | 2022 | PMID: 34529042 |
| Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare Mendelian disorders. | Marinakis NM | American journal of medical genetics. Part A | 2021 | PMID: 34008892 |
| Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients. | Vereb N | Journal of neurology | 2021 | PMID: 33263785 |
| Myotonia Congenita. | Adam MP | - | 2021 | PMID: 20301529 |
| Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia. | Altamura C | Frontiers in neurology | 2020 | PMID: 33013670 |
| Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness. | Töpf A | Genetics in medicine : official journal of the American College of Medical Genetics | 2020 | PMID: 32528171 |
| Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands. | Stunnenberg BC | Neuromuscular disorders : NMD | 2018 | PMID: 29606556 |
| Myotonia congenita type Becker in Bulgaria: First genetically proven cases and mutation screening of two presumable endemic regions. | Tincheva S | Neuromuscular disorders : NMD | 2016 | PMID: 27614575 |
| Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. | Neřoldová M | Pharmacogenomics | 2016 | PMID: 27296017 |
| Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies. | Inashkina I | BMC musculoskeletal disorders | 2016 | PMID: 27142102 |
| ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation. | Imbrici P | The Journal of physiology | 2015 | PMID: 26096614 |
| Becker myotonia-a recently identified mutation in iberian descendants with apparent acetazolamide-responsive phenotype. | Moreira SD | Muscle & nerve | 2015 | PMID: 25487368 |
| Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance. | Richardson RC | Muscle & nerve | 2014 | PMID: 23893571 |
| CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel. | Skálová D | PloS one | 2013 | PMID: 24349310 |
| A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. | Brugnoni R | Journal of human genetics | 2013 | PMID: 23739125 |
| A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene. | Brugnoni R | Journal of human genetics | 2013 | PMID: 23739125 |
| An informatics approach to analyzing the incidentalome. | Berg JS | Genetics in medicine : official journal of the American College of Medical Genetics | 2013 | PMID: 22995991 |
| New immunohistochemical method for improved myotonia and chloride channel mutation diagnostics. | Raheem O | Neurology | 2012 | PMID: 23152584 |
| ClC1 chloride channel in myotonic dystrophy type 2 and ClC1 splicing in vitro. | Ursu SF | Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology | 2012 | PMID: 23097607 |
| Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype. | Gurgel-Giannetti J | Muscle & nerve | 2012 | PMID: 22246887 |
| A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris. | Zielonka D | Neuromuscular disorders : NMD | 2012 | PMID: 22197187 |
| Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. | Mazón MJ | Neuromuscular disorders : NMD | 2012 | PMID: 22094069 |
| Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene. | Mazón MJ | Neuromuscular disorders : NMD | 2012 | PMID: 22094069 |
| Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians. | Dupré N | Neuromuscular disorders : NMD | 2009 | PMID: 18337100 |
| High frequency of co-segregating CLCN1 mutations among myotonic dystrophy type 2 patients from Finland and Germany. | Suominen T | Journal of neurology | 2008 | PMID: 18807109 |
| In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia. | Trip J | European journal of human genetics : EJHG | 2008 | PMID: 18337730 |
| Dosage effect of a dominant CLCN1 mutation: a novel syndrome. | Bernard G | Journal of child neurology | 2008 | PMID: 18263754 |
| F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1. | Papponen H | Muscle & nerve | 2008 | PMID: 17990293 |
| Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. | Fialho D | Brain : a journal of neurology | 2007 | PMID: 17932099 |
| Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions. | Fialho D | Brain : a journal of neurology | 2007 | PMID: 17932099 |
| Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix. | Macías MJ | The Biochemical journal | 2007 | PMID: 17107341 |
| Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channels. | Hebeisen S | Biophysical journal | 2005 | PMID: 15980168 |
| Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype. | Dunø M | European journal of human genetics : EJHG | 2004 | PMID: 15162127 |
| Novel CLCN1 mutations with unique clinical and electrophysiological consequences. | Wu FF | Brain : a journal of neurology | 2002 | PMID: 12390967 |
| Myotonia caused by mutations in the muscle chloride channel gene CLCN1. | Pusch M | Human mutation | 2002 | PMID: 11933197 |
| Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia. | Sun C | European journal of human genetics : EJHG | 2001 | PMID: 11840191 |
| Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation. | Zhang J | The Journal of biological chemistry | 2000 | PMID: 10644771 |
| Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM. | Sun C | Clinical genetics | 1999 | PMID: 10665666 |
| Founder mutations and the high prevalence of myotonia congenita in northern Finland. | Papponen H | Neurology | 1999 | PMID: 10430417 |
| Novel muscle chloride channel (CLCN1) mutations in myotonia congenita with various modes of inheritance including incomplete dominance and penetrance. | Plassart-Schiess E | Neurology | 1998 | PMID: 9566422 |
| Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita. | Zhang J | Neurology | 1996 | PMID: 8857733 |
| Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect. | Koty PP | Neurology | 1996 | PMID: 8857727 |
| Novel muscle chloride channel mutations and their effects on heterozygous carriers. | Mailänder V | American journal of human genetics | 1996 | PMID: 8571958 |
| Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel. | Pusch M | Neuron | 1995 | PMID: 8845168 |
| Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia. | Meyer-Kleine C | American journal of human genetics | 1995 | PMID: 8533761 |
| Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita. | George AL Jr | Human molecular genetics | 1994 | PMID: 7874130 |
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Text-mined citations for this variant ...
HelpRecord last updated Oct 20, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.