NM_000166.6(GJB1):c.64C>T (p.Arg22Ter) AND Charcot-Marie-Tooth disease X-linked dominant 1

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Oct 31, 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:: RCV000763633.6

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]

Condition(s)

Name:: Charcot-Marie-Tooth disease X-linked dominant 1
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED, 1; CMTX 1; Charcot-Marie-Tooth peroneal muscular atrophy, X-linked; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010549; MedGen: C0393808; Orphanet: 101075; OMIM: 302800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000894501	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Oct 31, 2018)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV003930347	Neurogenomics Lab, Neuroscience Institute, University Of Cape Town	no assertion criteria provided	Pathogenic (Jun 1, 2023)	germline	research	PubMed (1) [See all records that cite this PMID]
SCV004174718	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (Jan 6, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000894501

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Oct 31, 2018)

unknown

clinical testing

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

SCV003930347

Neurogenomics Lab, Neuroscience Institute, University Of Cape Town

no assertion criteria provided

Pathogenic
(Jun 1, 2023)

germline

research

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

SCV004174718

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(Jan 6, 2016)

germline

literature only

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	yes	1	not provided	not provided	not provided	not provided	literature only, research
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

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 (3)

PMC

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL.

Genetics in medicine : official journal of the American College of Medical Genetics. 2015 Mar 5; 17(5): 405-424

PMC [article]

PMCID:: PMC4544753
PMID:: 25741868
DOI:: 10.1038/gim.2015.30

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV000894501.1

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

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

From Neurogenomics Lab, Neuroscience Institute, University Of Cape Town, SCV003930347.1

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

Description

PM2_supporting: this variant is absent from gnomAD v2.1.1 and v3.1.2 (adequate coverage >20X confirmed) and an internal database of 1074 control alleles. PM1 met: variant occurs in the N-terminus connexin domain together with other pathogenic variants. PS4 met: variant identified in ≥ 10 unrelated probands with consistent phenotype for disorder. PVS1 met: null variant (nonsense or frameshift variant, predicted to undergo NMD, exon is present in biologically-relevant transcript) in a gene where LOF is a known mechanism of disease. PP1 met: variant segregates with 3 informative meioses in 1 family (PMID: 8698335).

#	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

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174718.1

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

#	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: Apr 15, 2024

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