NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val) 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:: RCV000020102.4

Allele description [Variation Report for NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)]

NM_000083.3(CLCN1):c.1592C>T (p.Ala531Val)

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.1592C>T (p.Ala531Val)

HGVS:

NC_000007.14:g.143341938C>T
NG_009815.2:g.30813C>T
NM_000083.3:c.1592C>TMANE SELECT
NP_000074.3:p.Ala531Val
NC_000007.13:g.143039031C>T
NG_009815.1:g.30813C>T
NM_000083.2:c.1592C>T
NR_046453.2:n.1547C>T
p.Ala531Val

Protein change:

A531V

Links:

dbSNP: rs80356704

NCBI 1000 Genomes Browser:

rs80356704

Molecular consequence:

NM_000083.3:c.1592C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_046453.2:n.1547C>T - 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
SCV000040422	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (7) [See all records that cite these PMIDs] 8857727, 8571958, 8857733, 9566422, 15162127, 18263754, 23893571

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000040422

GeneReviews

no classification provided

not provided

germline

literature only

PubMed (7)
[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	germline	unknown	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Myotonia and the muscle chloride channel: dominant mutations show variable penetrance and founder effect.

Koty PP, Pegoraro E, Hobson G, Marks HG, Turel A, Flagler D, Cadaldini M, Angelini C, Hoffman EP.

Neurology. 1996 Oct;47(4):963-8.

PubMed [citation]

PMID:: 8857727

Novel muscle chloride channel mutations and their effects on heterozygous carriers.

Mailänder V, Heine R, Deymeer F, Lehmann-Horn F.

Am J Hum Genet. 1996 Feb;58(2):317-24.

PubMed [citation]

PMID:: 8571958
PMCID:: PMC1914535

See all PubMed Citations (7)

Details of each submission

From GeneReviews, SCV000040422.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (7)

Description

Associated with autosomal recessive and autosomal dominant mode of inheritance

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

Last Updated: Sep 29, 2024

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