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NM_000083.3(CLCN1):c.180G>A (p.Gln60=) AND Congenital myotonia, autosomal recessive form

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 14, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003448722.2

Allele description [Variation Report for NM_000083.3(CLCN1):c.180G>A (p.Gln60=)]

NM_000083.3(CLCN1):c.180G>A (p.Gln60=)

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.180G>A (p.Gln60=)
HGVS:
  • NC_000007.14:g.143316392G>A
  • NG_009815.2:g.5267G>A
  • NM_000083.3:c.180G>AMANE SELECT
  • NP_000074.3:p.Gln60=
  • NC_000007.13:g.143013485G>A
  • NR_046453.2:n.282G>A
Links:
dbSNP: rs1296103687
NCBI 1000 Genomes Browser:
rs1296103687
Molecular consequence:
  • NR_046453.2:n.282G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_000083.3:c.180G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Congenital myotonia, autosomal recessive form
Synonyms:
BECKER DISEASE; Becker Generalized Myotonia
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
SCV004176374Neuberg Centre For Genomic Medicine, NCGM
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Feb 14, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neuberg Centre For Genomic Medicine, NCGM, SCV004176374.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The splice region synonymous c.180G>A (p.Gln60) variant in CLCN1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.180G>A variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant has not been reported to the ClinVar database. The splice AI predicts a donor loss (0.11), therefore functional studies will be required to prove the pathogenicity of this variant. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025