NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) AND Batten-Turner congenital myopathy

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV000020117.3

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)

Name:: Batten-Turner congenital myopathy
Identifiers:: MONDO: MONDO:0100468; MedGen: C0027127; OMIM: 255300

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000040437	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (2) [See all records that cite these PMIDs] 7581380, 20301529

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040437

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Myotonia levior is a chloride channel disorder.

Lehmann-Horn F, Mailänder V, Heine R, George AL.

Hum Mol Genet. 1995 Aug;4(8):1397-402.

PubMed [citation]

PMID:: 7581380

Myotonia Congenita.

Dunø M, Vissing J.

2005 Aug 3 [updated 2021 Feb 25]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]

PMID:: 20301529

Details of each submission

From GeneReviews, SCV000040437.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	not provided	not provided	not provided	Assert pathogenicity		not provided	not provided	not provided	not provided

Last Updated: Jun 17, 2024

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