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NM_000166.6(GJB1):c.548G>A (p.Arg183His) AND not provided

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 10, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000517827.25

Allele description [Variation Report for NM_000166.6(GJB1):c.548G>A (p.Arg183His)]

NM_000166.6(GJB1):c.548G>A (p.Arg183His)

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.548G>A (p.Arg183His)
HGVS:
  • NC_000023.11:g.71224255G>A
  • NG_008357.1:g.14044G>A
  • NM_000166.6:c.548G>AMANE SELECT
  • NM_001097642.3:c.548G>A
  • NP_000157.1:p.Arg183His
  • NP_001091111.1:p.Arg183His
  • LRG_245t2:c.548G>A
  • LRG_245:g.14044G>A
  • LRG_245p2:p.Arg183His
  • NC_000023.10:g.70444105G>A
  • NM_000166.5:c.548G>A
Protein change:
R183H
Links:
dbSNP: rs1555937233
NCBI 1000 Genomes Browser:
rs1555937233
Molecular consequence:
  • NM_000166.6:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000613491Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics criteria)		Pathogenic
(Mar 10, 2021) 		unknownclinical testing

PubMed (13)
[See all records that cite these PMIDs]

SCV001245766CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Pathogenic
(Nov 1, 2016) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Cellular mechanisms of connexin32 mutations associated with CNS manifestations.

Kleopa KA, Yum SW, Scherer SS.

J Neurosci Res. 2002 Jun 1;68(5):522-34.

PubMed [citation]
PMID:
12111842

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, van Broeckhoven C, Evgrafov OV.

Hum Mutat. 2000;15(4):340-7. Erratum in: Hum Mutat 2000;16(2):175.

PubMed [citation]
PMID:
10737979
See all PubMed Citations (13)

Details of each submission

From Athena Diagnostics, SCV000613491.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (13)

Description

This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with X-linked Charcot-Marie-Tooth neuropathy, type 1 (CMTX1). At least one other missense variant at this codon is considered to be pathogenic or likely pathogenic, suggesting this variant may also cause disease. Assessment of experimental evidence suggests this variant results in abnormal protein function. This variant causes aberrant cellular localization of this gap junction protein (PMID: 12111842). This variant alters a critical location within the protein, and is expected to severely affect function and cause disease. Computational tools predict that this variant is damaging.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV001245766.26

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 20, 2024