NM_000166.6(GJB1):c.42_43insT (p.Arg15fs) AND Charcot-Marie-Tooth disease X-linked dominant 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 8, 2017
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:: RCV003447283.1

Allele description [Variation Report for NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)]

NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)

Gene:

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

Variant type:

Insertion

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_000166.6(GJB1):c.42_43insT (p.Arg15fs)

HGVS:

NC_000023.11:g.71223749_71223750insT
NG_008357.1:g.13538_13539insT
NM_000166.6:c.42_43insTMANE SELECT
NM_001097642.3:c.42_43insT
NP_000157.1:p.Arg15fs
NP_001091111.1:p.Arg15fs
LRG_245t2:c.42_43insT
LRG_245:g.13538_13539insT
LRG_245p2:p.Arg15fs
NC_000023.10:g.70443599_70443600insT
NM_000166.5:c.42_43insT

Protein change:

R15fs

Links:

dbSNP: rs1602348598

NCBI 1000 Genomes Browser:

rs1602348598

Molecular consequence:

NM_000166.6:c.42_43insT - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001097642.3:c.42_43insT - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Patient Care Team
Patient Care Team
Care of patients by a multidisciplinary team usually organized under the leadership of a physician; each member of the team has specific responsibilities and the whole team co...<br/>Year introduced: 1968

MeSH

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004174661	Inherited Neuropathy Consortium Ii, University Of Miami	no assertion criteria provided	Uncertain significance (May 8, 2017)	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

SCV004174661

Inherited Neuropathy Consortium Ii, University Of Miami

no assertion criteria provided

Uncertain significance
(May 8, 2017)

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	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Mutational analysis of PMP22, GJB1 and MPZ in Greek Charcot-Marie-Tooth type 1 neuropathy patients.

Karadima G, Floroskufi P, Koutsis G, Vassilopoulos D, Panas M.

Clin Genet. 2011 Nov;80(5):497-9. doi: 10.1111/j.1399-0004.2011.01657.x. No abstract available.

PubMed [citation]

PMID:: 22243284

Details of each submission

From Inherited Neuropathy Consortium Ii, University Of Miami, SCV004174661.1

#	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: Dec 17, 2023

ClinVar

Relating variation to medicine