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NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 3, 2020
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:
RCV000711241.3

Allele description [Variation Report for NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)]

NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)

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.870C>G (p.Ile290Met)
HGVS:
  • NC_000007.14:g.143330788C>G
  • NG_009815.2:g.19663C>G
  • NM_000083.3:c.870C>GMANE SELECT
  • NP_000074.3:p.Ile290Met
  • NC_000007.13:g.143027881C>G
  • NG_009815.1:g.19663C>G
  • NM_000083.2:c.870C>G
  • NR_046453.2:n.975C>G
  • P35523:p.Ile290Met
Protein change:
I290M; ILE290MET
Links:
UniProtKB: P35523#VAR_001595; OMIM: 118425.0008; dbSNP: rs80356690
NCBI 1000 Genomes Browser:
rs80356690
Molecular consequence:
  • NM_000083.3:c.870C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046453.2:n.975C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000841573Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)		Pathogenic
(Nov 3, 2020) 		unknownclinical testing

PubMed (12)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia.

Meyer-Kleine C, Steinmeyer K, Ricker K, Jentsch TJ, Koch MC.

Am J Hum Genet. 1995 Dec;57(6):1325-34.

PubMed [citation]
PMID:
8533761
PMCID:
PMC1801423

Targeted Next Generation Sequencing in patients with Myotonia Congenita.

Ferradini V, Cassone M, Nuovo S, Bagni I, D'Apice MR, Botta A, Novelli G, Sangiuolo F.

Clin Chim Acta. 2017 Jul;470:1-7. doi: 10.1016/j.cca.2017.04.012. Epub 2017 Apr 17.

PubMed [citation]
PMID:
28427807
See all PubMed Citations (12)

Details of each submission

From Athena Diagnostics, SCV000841573.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (12)

Description

This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant segregates with disease in multiple families. Assessment of experimental evidence suggests this variant results in abnormal protein function. Study shows this variant causes a reduction of the gate open probability (PMID: 10051520). Computational tools predict that this variant is damaging.

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

Last Updated: Oct 13, 2024