NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) AND Charcot-Marie-Tooth Neuropathy X

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 30, 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:: RCV000698062.7

Allele description [Variation Report for NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)]

NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

Xq13.1

Genomic location:

Preferred name:

NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe)

HGVS:

NC_000023.11:g.71224270CCGTCTTCA[3]
NG_008357.1:g.14059CCGTCTTCA[3]
NM_000166.6:c.563CCGTCTTCA[3]MANE SELECT
NM_001097642.3:c.563CCGTCTTCA[3]
NP_000157.1:p.188TVF[3]
NP_001091111.1:p.188TVF[3]
LRG_245t2:c.563CCGTCTTCA[3]
LRG_245:g.14059CCGTCTTCA[3]
LRG_245p2:p.188TVF[3]
NC_000023.10:g.70444118_70444119insACCGTCTTC
NC_000023.10:g.70444120CCGTCTTCA[3]
NM_000166.5:c.572_580dupCCGTCTTCA

Links:

dbSNP: rs116840823

NCBI 1000 Genomes Browser:

rs116840823

Molecular consequence:

NM_000166.6:c.563CCGTCTTCA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001097642.3:c.563CCGTCTTCA[3] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Charcot-Marie-Tooth Neuropathy X
Identifiers:: MedGen: CN118851

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000826703	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 30, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 17052905, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000826703

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 30, 2022)

germline

clinical testing

PubMed (2)
[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

A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.

Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML.

Neuromuscul Disord. 2006 Dec;16(12):878-81. Epub 2006 Oct 17.

PubMed [citation]

PMID:: 17052905

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, SCV000826703.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 21087). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease, type X (CMTX) (PMID: 17052905). This variant is not present in population databases (gnomAD no frequency). This variant, c.572_580dup, results in the insertion of 3 amino acid(s) of the GJB1 protein (p.Thr191_Phe193dup), but otherwise preserves the integrity of the reading frame.

#	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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