NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 26, 2018
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:: RCV000711223.2

Allele description [Variation Report for NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp)]

NM_000083.3(CLCN1):c.1652G>A (p.Gly551Asp)

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.1652G>A (p.Gly551Asp)

HGVS:

NC_000007.14:g.143341998G>A
NG_009815.2:g.30873G>A
NM_000083.3:c.1652G>AMANE SELECT
NP_000074.3:p.Gly551Asp
NC_000007.13:g.143039091G>A
NG_009815.1:g.30873G>A
NM_000083.2:c.1652G>A
NR_046453.2:n.1607G>A

Protein change:

G551D

Links:

dbSNP: rs1563084603

NCBI 1000 Genomes Browser:

rs1563084603

Molecular consequence:

NM_000083.3:c.1652G>A - missense variant - [Sequence Ontology: SO:0001583]
NR_046453.2:n.1607G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000841555	Athena Diagnostics	criteria provided, single submitter (Athena Diagnostics Criteria)	Uncertain significance (Jun 26, 2018)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 24037712, 20120005, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000841555

Athena Diagnostics

criteria provided, single submitter

(Athena Diagnostics Criteria)

Uncertain significance
(Jun 26, 2018)

germline

clinical testing

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Chloride channels in myotonia congenita assessed by velocity recovery cycles.

Tan SV, Z'Graggen WJ, Boërio D, Rayan DR, Norwood F, Ruddy D, Howard R, Hanna MG, Bostock H.

Muscle Nerve. 2014 Jun;49(6):845-57. doi: 10.1002/mus.24069. Epub 2014 May 2.

PubMed [citation]

PMID:: 24037712

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

Kumar KR, Ng K, Vandebona H, Davis MR, Sue CM.

Muscle Nerve. 2010 Mar;41(3):412-5. doi: 10.1002/mus.21610.

PubMed [citation]

PMID:: 20120005

See all PubMed Citations (3)

Details of each submission

From Athena Diagnostics, SCV000841555.1

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

#	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: May 7, 2024

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