NM_000166.6(GJB1):c.376C>T (p.His126Tyr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 16, 2023
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:: RCV000236069.2

Allele description [Variation Report for NM_000166.6(GJB1):c.376C>T (p.His126Tyr)]

NM_000166.6(GJB1):c.376C>T (p.His126Tyr)

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.376C>T (p.His126Tyr)

HGVS:

NC_000023.11:g.71224083C>T
NG_008357.1:g.13872C>T
NM_000166.6:c.376C>TMANE SELECT
NM_001097642.3:c.376C>T
NP_000157.1:p.His126Tyr
NP_001091111.1:p.His126Tyr
LRG_245t2:c.376C>T
LRG_245:g.13872C>T
LRG_245p2:p.His126Tyr
NC_000023.10:g.70443933C>T
NM_000166.5:c.376C>T
P08034:p.His126Tyr

Protein change:

H126Y

Links:

UniProtKB: P08034#VAR_029923; dbSNP: rs879253995

NCBI 1000 Genomes Browser:

rs879253995

Molecular consequence:

NM_000166.6:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001097642.3:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000293099	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Feb 16, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000293099

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Feb 16, 2023)

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	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000293099.11

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

Description

Observed in multiple unrelated individuals with Charcot-Marie-Tooth disease (Panosyan et al., 2017; Verhelst et al., 2000; Volodarsky et al., 2021); Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28768847, 11030070, 32376792)

#	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: Feb 20, 2024

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