NM_004004.6(GJB2):c.244A>G (p.Ile82Val) AND Autosomal dominant keratitis-ichthyosis-hearing loss syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: May 7, 2018
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:: RCV000735855.2

Allele description [Variation Report for NM_004004.6(GJB2):c.244A>G (p.Ile82Val)]

NM_004004.6(GJB2):c.244A>G (p.Ile82Val)

Gene:

GJB2:gap junction protein beta 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.11

Genomic location:

Preferred name:

NM_004004.6(GJB2):c.244A>G (p.Ile82Val)

HGVS:

NC_000013.11:g.20189338T>C
NG_008358.1:g.8638A>G
NM_004004.6:c.244A>GMANE SELECT
NP_003995.2:p.Ile82Val
LRG_1350t1:c.244A>G
LRG_1350:g.8638A>G
LRG_1350p1:p.Ile82Val
NC_000013.10:g.20763477T>C
NM_004004.5:c.244A>G

Protein change:

I82V

Links:

dbSNP: rs1566528711

NCBI 1000 Genomes Browser:

rs1566528711

Molecular consequence:

NM_004004.6:c.244A>G - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

Unknown function

Observations:

Condition(s)

Name:: Autosomal dominant keratitis-ichthyosis-hearing loss syndrome
Synonyms:: KID SYNDROME, AUTOSOMAL DOMINANT; Senter syndrome
Identifiers:: MONDO: MONDO:0007850; MedGen: C0265336; Orphanet: 477; OMIM: 148210

Recent activity

Clear Turn Off Turn On

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
SCV000747136	FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre	no assertion criteria provided	Likely pathogenic (May 7, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000747136

FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre

no assertion criteria provided

Likely pathogenic
(May 7, 2018)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Arab	germline	yes	3	1	not provided	not provided	not provided	clinical testing

Details of each submission

From FAHD UNIT, Department of Genetics, King Faisal Specialist Hospital and Research Centre, SCV000747136.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Arab	3	not provided	not provided	clinical testing	not provided

Description

The variant is causing keratitis-ichthyosis-deafness (KID) syndrome in three siblings, born to first-cousin healthy parents. The affected presented with the classic phenotypic triad of KID syndrome including diffuse hyperkeratotic erythroderma, neurosensory hearing loss and vascularizing keratitis.

#	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		3	not provided	1	not provided

Last Updated: May 16, 2025

ClinVar

Relating variation to medicine