NM_001943.5(DSG2):c.298G>C (p.Gly100Arg) AND Arrhythmogenic right ventricular cardiomyopathy, type 10

Clinical significance:Uncertain significance (Last evaluated: Jun 16, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001303073.1

Allele description [Variation Report for NM_001943.5(DSG2):c.298G>C (p.Gly100Arg)]

NM_001943.5(DSG2):c.298G>C (p.Gly100Arg)

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.298G>C (p.Gly100Arg)
HGVS:
  • NC_000018.10:g.31520884G>C
  • NG_007072.3:g.27643G>C
  • NM_001943.5:c.298G>CMANE SELECT
  • NP_001934.2:p.Gly100Arg
  • LRG_397:g.27643G>C
  • NC_000018.9:g.29100847G>C
Protein change:
G100R
Molecular consequence:
  • NM_001943.5:c.298G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Arrhythmogenic right ventricular cardiomyopathy, type 10 (ARVD10)
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular dysplasia type 10; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy10
Identifiers:
MONDO: MONDO:0012434; MedGen: C1857777; OMIM: 610193

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001492307Invitaecriteria provided, single submitter
Uncertain significance
(Jun 16, 2020)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

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

Citations

PubMed

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.

Pilichou K, Nava A, Basso C, Beffagna G, Bauce B, Lorenzon A, Frigo G, Vettori A, Valente M, Towbin J, Thiene G, Danieli GA, Rampazzo A.

Circulation. 2006 Mar 7;113(9):1171-9. Epub 2006 Feb 27.

PubMed [citation]
PMID:
16505173

Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.

Rigato I, Bauce B, Rampazzo A, Zorzi A, Pilichou K, Mazzotti E, Migliore F, Marra MP, Lorenzon A, De Bortoli M, Calore M, Nava A, Daliento L, Gregori D, Iliceto S, Thiene G, Basso C, Corrado D.

Circ Cardiovasc Genet. 2013 Dec;6(6):533-42. doi: 10.1161/CIRCGENETICS.113.000288. Epub 2013 Sep 26.

PubMed [citation]
PMID:
24070718
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV001492307.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change replaces glycine with arginine at codon 100 of the DSG2 protein (p.Gly100Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs754405184, ExAC 0.003%). This variant has been observed in individual(s) with arrhythmogenic right ventricular cardiomyopathy (PMID: 16505173, 24070718). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 5

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

Last Updated: Mar 12, 2021

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