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NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile) AND Cardiovascular phenotype

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 24, 2021
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:
RCV002390687.2

Allele description [Variation Report for NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)]

NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)
HGVS:
  • NC_000018.10:g.31536217C>T
  • NG_007072.3:g.42976C>T
  • NM_001943.5:c.1439C>TMANE SELECT
  • NP_001934.2:p.Thr480Ile
  • LRG_397t1:c.1439C>T
  • LRG_397:g.42976C>T
  • NC_000018.9:g.29116180C>T
  • NM_001943.3:c.1439C>T
  • NM_001943.4:c.1439C>T
Protein change:
T480I
Links:
dbSNP: rs1598819592
NCBI 1000 Genomes Browser:
rs1598819592
Molecular consequence:
  • NM_001943.5:c.1439C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002699328Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Nov 24, 2021) 		germlineclinical testing

PubMed (4)
[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

Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy.

Perrin MJ, Angaran P, Laksman Z, Zhang H, Porepa LF, Rutberg J, James C, Krahn AD, Judge DP, Calkins H, Gollob MH.

J Am Coll Cardiol. 2013 Nov 5;62(19):1772-9. doi: 10.1016/j.jacc.2013.04.084. Epub 2013 Jun 27.

PubMed [citation]
PMID:
23810883

Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.

Adler A, Sadek MM, Chan AY, Dell E, Rutberg J, Davis D, Green MS, Spears DA, Gollob MH.

Circ Arrhythm Electrophysiol. 2016 Jan;9(1):e003440. doi: 10.1161/CIRCEP.115.003440.

PubMed [citation]
PMID:
26743238
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002699328.2

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

Description

The p.T480I variant (also known as c.1439C>T), located in coding exon 11 of the DSG2 gene, results from a C to T substitution at nucleotide position 1439. The threonine at codon 480 is replaced by isoleucine, an amino acid with similar properties. This variant was initially reported in an asymptomatic individual from an arrhythmogenic right ventricular cardiomyopathy (ARVC) variant study, who had normal transthoracic echocardiography results and also had a PKP2 variant detected (Perrin MJ et al. J Am Coll Cardiol, 2013 Nov;62:1772-9). This variant has also been reported in arrhythmia cohorts; however, clinical details were limited (Adler A et al. Circ Arrhythm Electrophysiol, 2016 Jan;9:e003440; VanDyke RE et al. J Genet Couns, 2021 04;30:503-512). This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. 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: May 7, 2024