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NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 27, 2018
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:
RCV000516335.4

Allele description [Variation Report for NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)]

NM_000166.6(GJB1):c.175G>C (p.Gly59Arg)

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.175G>C (p.Gly59Arg)
HGVS:
  • NC_000023.11:g.71223882G>C
  • NG_008357.1:g.13671G>C
  • NM_000166.6:c.175G>CMANE SELECT
  • NM_001097642.3:c.175G>C
  • NP_000157.1:p.Gly59Arg
  • NP_001091111.1:p.Gly59Arg
  • LRG_245t2:c.175G>C
  • LRG_245:g.13671G>C
  • LRG_245p2:p.Gly59Arg
  • NC_000023.10:g.70443732G>C
  • NM_000166.5:c.175G>C
Protein change:
G59R
Links:
dbSNP: rs1555937077
NCBI 1000 Genomes Browser:
rs1555937077
Molecular consequence:
  • NM_000166.6:c.175G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.175G>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000613478Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Likely pathogenic
(Dec 27, 2018) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Severe X-linked Charcot-Marie-Tooth neuropathy due to new mutations [G59R(G-->C), W44X(G-->A)] in the connexin 32 gene.

Felice KJ, Seltzer WK.

Eur Neurol. 2000;44(1):61-3. No abstract available.

PubMed [citation]
PMID:
10894999

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Athena Diagnostics, SCV000613478.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

Not found in the total gnomAD dataset, and the data is high quality (0/199642 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Moderate co-segregation with disease in multiple families, but using affected individuals only.

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

Last Updated: Sep 29, 2024