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NM_000166.6(GJB1):c.208C>T (p.Pro70Ser) AND Inborn genetic diseases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 3, 2020
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:
RCV002422675.2

Allele description [Variation Report for NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)]

NM_000166.6(GJB1):c.208C>T (p.Pro70Ser)

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.208C>T (p.Pro70Ser)
HGVS:
  • NC_000023.11:g.71223915C>T
  • NG_008357.1:g.13704C>T
  • NM_000166.6:c.208C>TMANE SELECT
  • NM_001097642.3:c.208C>T
  • NP_000157.1:p.Pro70Ser
  • NP_001091111.1:p.Pro70Ser
  • LRG_245t2:c.208C>T
  • LRG_245:g.13704C>T
  • LRG_245p2:p.Pro70Ser
  • NC_000023.10:g.70443765C>T
  • NM_000166.5:c.208C>T
Protein change:
P70S
Links:
dbSNP: rs878853697
NCBI 1000 Genomes Browser:
rs878853697
Molecular consequence:
  • NM_000166.6:c.208C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001097642.3:c.208C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002730227Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Mar 3, 2020) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

X-linked Charcot-Marie-Tooth disease and connexin32.

Ionasescu VV.

Cell Biol Int. 1998 Nov;22(11-12):807-13.

PubMed [citation]
PMID:
10873293

Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease with phenotypic variability.

Karadima G, Panas M, Floroskufi P, Kalfakis N, Vassilopoulos D.

J Neurol. 2006 Feb;253(2):263-4. Epub 2005 Aug 17. No abstract available.

PubMed [citation]
PMID:
16096811
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002730227.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.P70S variant (also known as c.208C>T), located in coding exon 1 of the GJB1 gene, results from a C to T substitution at nucleotide position 208. The proline at codon 70 is replaced by serine, an amino acid with similar properties. This variant has been detected in a female individual with a diagnosis of Charcot-Marie-Tooth neuropathy (Houlden H et al. Eye (Lond), 2009 Apr;23:966-74). Additionally, this variant was noted in a male individual initially presenting with features of an inflammatory neuropathy who was later noted to also have features of Charcot-Marie-Tooth neuropathy, as well as his mother who presented with diminished Achilles tendon reflexes and mild bilateral peroneal weakness (Kokubun N et al. Clin Exp Neuroimmunol, 2020 Jan; DOI: 10.1111/cen3.12566). Additional alterations have also been reported at this amino acid position in patients with Charcot-Marie-Tooth neuropathy (Ionasescu VV. Cell Biol. Int., 1998 Nov;22:807-13; Karadima G et al. J. Neurol., 2006 Feb;253:263-4; Siskind CE et al. J. Peripher. Nerv. Syst., 2011 Jun;16:102-7). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 29, 2024