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NM_002230.4(JUP):c.56C>T (p.Thr19Ile) AND Arrhythmogenic right ventricular dysplasia 12

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2017
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:
RCV000393399.5

Allele description [Variation Report for NM_002230.4(JUP):c.56C>T (p.Thr19Ile)]

NM_002230.4(JUP):c.56C>T (p.Thr19Ile)

Gene:
JUP:junction plakoglobin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.2
Genomic location:
Preferred name:
NM_002230.4(JUP):c.56C>T (p.Thr19Ile)
HGVS:
  • NC_000017.11:g.41771799G>A
  • NG_009090.2:g.19914C>T
  • NM_001352773.2:c.56C>T
  • NM_001352774.2:c.56C>T
  • NM_001352775.2:c.56C>T
  • NM_001352776.2:c.56C>T
  • NM_001352777.2:c.56C>T
  • NM_002230.4:c.56C>TMANE SELECT
  • NM_021991.4:c.56C>T
  • NP_001339702.1:p.Thr19Ile
  • NP_001339703.1:p.Thr19Ile
  • NP_001339704.1:p.Thr19Ile
  • NP_001339705.1:p.Thr19Ile
  • NP_001339706.1:p.Thr19Ile
  • NP_002221.1:p.Thr19Ile
  • NP_068831.1:p.Thr19Ile
  • LRG_401t1:c.56C>T
  • LRG_401t2:c.56C>T
  • LRG_401:g.19914C>T
  • NC_000017.10:g.39928051G>A
  • NM_002230.2:c.56C>T
  • NM_021991.2:c.56C>T
  • P14923:p.Thr19Ile
Protein change:
T19I
Links:
UniProtKB: P14923#VAR_065698; dbSNP: rs570878629
NCBI 1000 Genomes Browser:
rs570878629
Molecular consequence:
  • NM_001352773.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352774.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352775.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352776.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001352777.2:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002230.4:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_021991.4:c.56C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 12
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; Arrhythmogenic right ventricular cardiomyopathy, type 12
Identifiers:
MONDO: MONDO:0012684; MedGen: C1969081; OMIM: 611528

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000402762Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 09 May 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study.

Garcia-Pavia P, Syrris P, Salas C, Evans A, Mirelis JG, Cobo-Marcos M, Vilches C, Bornstein B, Segovia J, Alonso-Pulpon L, Elliott PM.

Heart. 2011 Nov;97(21):1744-52. doi: 10.1136/hrt.2011.227967. Epub 2011 Aug 22.

PubMed [citation]
PMID:
21859740

Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.

den Haan AD, Tan BY, Zikusoka MN, Lladó LI, Jain R, Daly A, Tichnell C, James C, Amat-Alarcon N, Abraham T, Russell SD, Bluemke DA, Calkins H, Dalal D, Judge DP.

Circ Cardiovasc Genet. 2009 Oct;2(5):428-35. doi: 10.1161/CIRCGENETICS.109.858217. Epub 2009 Jun 3.

PubMed [citation]
PMID:
20031617
PMCID:
PMC2801867

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000402762.3

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

Description

The JUP c.56C>T (p.Thr19Ile) variant has been reported in two studies and is found in a heterozygous state in one individual with arrhythmogenic right ventricular cardiomyopathy (ARVC) and one individual with dilated cardiomyopathy (DCM) (den Haan et al. 2009; Garcia-Pavia et al. 2011). The father of the proband with DCM was presumed to carry the variant, but had died of sudden cardiac death at age 53 and was not tested (Garcia-Pavia et al. 2011). The variant was also found in four unaffected relatives of the proband with DCM, with three showing other cardiovascular abnormalities including coronary artery disease, palpitations, and atrial fibrillation (Garcia-Pavia et al. 2011). The p.Thr19Ile variant was absent from 800 control chromosomes (den Haan et al. 2009; Garcia-Pavia et al. 2011), but is reported at a frequency of 0.00017 in the European (non-Finnish) population of the Exome Aggregation Consortium. The evidence for this variant is limited. The p.Thr19Ile variant is classified as a variant of unknown significance, but suspicious for pathogenicity for arrhythmogenic right ventricular cardiomyopathy. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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

Last Updated: Sep 29, 2024