NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala) AND Congenital myotonia, autosomal dominant form

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 6, 2022
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV002267655.1

Allele description [Variation Report for NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala)]

NM_000083.3(CLCN1):c.1615A>G (p.Thr539Ala)

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.1615A>G (p.Thr539Ala)

HGVS:

NC_000007.14:g.143341961A>G
NG_009815.2:g.30836A>G
NM_000083.3:c.1615A>GMANE SELECT
NP_000074.3:p.Thr539Ala
NC_000007.13:g.143039054A>G
NR_046453.2:n.1570A>G

Protein change:

T539A

Links:

dbSNP: rs1474851853

NCBI 1000 Genomes Browser:

rs1474851853

Molecular consequence:

NM_000083.3:c.1615A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_046453.2:n.1570A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Congenital myotonia, autosomal dominant form (THD)
Synonyms:: Myotonia congenita autosomal dominant; Thomsen disease; Thomsen's disease
Identifiers:: MONDO: MONDO:0008055; MedGen: C2936781; Orphanet: 614; OMIM: 160800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002549779	Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences	no assertion criteria provided	Likely pathogenic (Apr 6, 2022)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002549779

Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences

no assertion criteria provided

Likely pathogenic
(Apr 6, 2022)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, SCV002549779.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

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

Last Updated: Dec 24, 2023

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