NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 8, 2022
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:: RCV002571533.2

Allele description [Variation Report for NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)]

NM_000083.3(CLCN1):c.2872G>T (p.Glu958Ter)

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.2872G>T (p.Glu958Ter)

HGVS:

NC_000007.14:g.143351870G>T
NG_009815.2:g.40745G>T
NM_000083.3:c.2872G>TMANE SELECT
NP_000074.3:p.Glu958Ter
NC_000007.13:g.143048963G>T
NM_000083.2:c.2872G>T
NR_046453.2:n.2827G>T

Protein change:

E958*

Molecular consequence:

NR_046453.2:n.2827G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NM_000083.3:c.2872G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Congenital myotonia, autosomal recessive form
Synonyms:: Myotonia congenita autosomal recessive; Becker disease; Myotonia generalized; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009715; MedGen: C0751360; Orphanet: 614; OMIM: 255700

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

Recent activity

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OsRALF17/19-3
OsRALF17/19-3

biosample
OsRALF17/19-2
OsRALF17/19-2

biosample
CBST3933.rev NICHD_XGC_tropThy1 Xenopus tropicalis cDNA clone IMAGE:8925217 3', ...
CBST3933.rev NICHD_XGC_tropThy1 Xenopus tropicalis cDNA clone IMAGE:8925217 3', mRNA sequence
gi|126551330|gnl|dbEST|45065204|gb| 845.1|

Nucleotide
Zoster Sine Herpete
Zoster Sine Herpete
HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult.<br/>Year introduced: 2003

MeSH
LOC571384 [Danio rerio]
LOC571384 [Danio rerio]
Gene ID:571384

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003490159	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jun 8, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003490159

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jun 8, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003490159.1

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

Description

This sequence change creates a premature translational stop signal (p.Glu958*) in the CLCN1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 31 amino acid(s) of the CLCN1 protein. This variant is present in population databases (rs755731058, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with CLCN1-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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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