NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) AND not provided

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Sep 1, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000516443.12

Allele description [Variation Report for NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)]

NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)

Gene:

GJB1:gap junction protein beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)

HGVS:

NC_000023.11:g.71223771C>T
NG_008357.1:g.13560C>T
NM_000166.6:c.64C>TMANE SELECT
NM_001097642.3:c.64C>T
NP_000157.1:p.Arg22Ter
NP_001091111.1:p.Arg22Ter
LRG_245t2:c.64C>T
LRG_245:g.13560C>T
LRG_245p2:p.Arg22Ter
NC_000023.10:g.70443621C>T
NM_000166.5:c.64C>T
p.Arg22*

Protein change:

R22*

Links:

dbSNP: rs1555937020

NCBI 1000 Genomes Browser:

rs1555937020

Molecular consequence:

NM_000166.6:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001097642.3:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

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
SCV000613498	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Mar 22, 2017)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 8004109, 8698335, 9401007, 18379723, 21692908, 26467025
SCV001823793	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Apr 11, 2019)	germline	clinical testing	Citation Link,
SCV002585130	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Sep 1, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000613498

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Mar 22, 2017)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

SCV001823793

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Apr 11, 2019)

germline

clinical testing

Citation Link,

SCV002585130

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Sep 1, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy.

Ionasescu V, Searby C, Ionasescu R.

Hum Mol Genet. 1994 Feb;3(2):355-8.

PubMed [citation]

PMID:: 8004109

X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.

Ressot C, Latour P, Blanquet-Grossard F, Sturtz F, Duthel S, Battin J, Corbillon E, Ollagnon E, Serville F, Vandenberghe A, Dautigny A, Pham-Dinh D.

Hum Genet. 1996 Aug;98(2):172-5.

PubMed [citation]

PMID:: 8698335

See all PubMed Citations (6)

Details of each submission

From Athena Diagnostics Inc, SCV000613498.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	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

From GeneDx, SCV001823793.1

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

Description

Nonsense variant predicted to result in protein truncation in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 31948496, 27228968, 8698335, 21692908, 18379723, 9401007, 21291455, 28768847, 24123415, 8004109)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV002585130.9

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

Description

GJB1: PVS1:Strong, PM2, PS4:Moderate, PP1, PP4

#	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		1	not provided	not provided	not provided

Last Updated: Apr 15, 2024

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