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NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr) AND Congenital myotonia, autosomal recessive form

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 6, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002267633.1

Allele description [Variation Report for NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)]

NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)

Gene:
CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q34
Genomic location:
Preferred name:
NM_000083.3(CLCN1):c.1679T>C (p.Met560Thr)
HGVS:
  • NC_000007.14:g.143342025T>C
  • NG_009815.2:g.30900T>C
  • NM_000083.3:c.1679T>CMANE SELECT
  • NP_000074.3:p.Met560Thr
  • NC_000007.13:g.143039118T>C
  • NG_009815.1:g.30900T>C
  • NM_000083.2:c.1679T>C
  • NR_046453.2:n.1634T>C
Protein change:
M560T
Links:
dbSNP: rs1269268607
NCBI 1000 Genomes Browser:
rs1269268607
Molecular consequence:
  • NM_000083.3:c.1679T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046453.2:n.1634T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Congenital myotonia, autosomal recessive form
Synonyms:
Myotonia congenita autosomal recessive; Becker disease; Myotonia generalized; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009715; MedGen: C0751360; Orphanet: 614; OMIM: 255700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002549787Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
no assertion criteria provided
Likely pathogenic
(Apr 6, 2022) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, SCV002549787.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024