NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) 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:: RCV000020121.3

Allele description [Variation Report for NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)]

NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)

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.950G>A (p.Arg317Gln)

HGVS:

NC_000007.14:g.143330868G>A
NG_009815.2:g.19743G>A
NM_000083.3:c.950G>AMANE SELECT
NP_000074.3:p.Arg317Gln
NC_000007.13:g.143027961G>A
NG_009815.1:g.19743G>A
NM_000083.2:c.950G>A
NR_046453.2:n.1055G>A
P35523:p.Arg317Gln

Protein change:

R317Q; ARG317GLN

Links:

UniProtKB: P35523#VAR_001600; OMIM: 118425.0011; dbSNP: rs80356702

NCBI 1000 Genomes Browser:

rs80356702

Molecular consequence:

NM_000083.3:c.950G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_046453.2:n.1055G>A - 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
SCV000040441	GeneReviews	no classification provided	not provided	unknown	literature only	PubMed (3) [See all records that cite these PMIDs] 10737121, 8533761, 20301529

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040441

GeneReviews

no classification provided

not provided

unknown

literature only

PubMed (3)
[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

Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.

Esteban J, Neumeyer AM, McKenna-Yasek D, Brown RH.

Neurogenetics. 1998 Mar;1(3):185-8.

PubMed [citation]

PMID:: 10737121

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

See all PubMed Citations (3)

Details of each submission

From GeneReviews, SCV000040441.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (3)

#	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: Sep 29, 2024

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