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NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) AND Arrhythmogenic right ventricular dysplasia 10

Germline classification:
Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:
Apr 29, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000018304.48

Allele description [Variation Report for NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)]

NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)

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.918G>A (p.Trp306Ter)
Other names:
W305*; p.W306*:TGG>TGA
HGVS:
  • NC_000018.10:g.31524792G>A
  • NG_007072.3:g.31551G>A
  • NM_001943.5:c.918G>AMANE SELECT
  • NP_001934.2:p.Trp306Ter
  • NP_001934.2:p.Trp306Ter
  • LRG_397t1:c.918G>A
  • LRG_397:g.31551G>A
  • LRG_397p1:p.Trp306Ter
  • NC_000018.9:g.29104755G>A
  • NG_007072.2:g.31551G>A
  • NM_001943.3:c.918G>A
Note:
NCBI staff reviewed the sequence information reported in PubMed 16773573 to determine the location of this allele on current reference sequence.
Protein change:
W306*; TRP305TER
Links:
OMIM: 125671.0002; dbSNP: rs121913007
NCBI 1000 Genomes Browser:
rs121913007
Molecular consequence:
  • NM_001943.5:c.918G>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
3

Condition(s)

Name:
Arrhythmogenic right ventricular dysplasia 10
Synonyms:
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular dysplasia/cardiomyopathy, 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
SCV000038583OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2006)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV002232679Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Pathogenic
(Apr 29, 2024)
germlineclinical testing

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

SCV002580542MGZ Medical Genetics Center
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Dec 28, 2021)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004809101KardioGenetik, Herz- und Diabeteszentrum NRW
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely pathogenic
(Mar 14, 2024)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedunknownyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Desmoglein-2 mutations in arrhythmogenic right ventricular cardiomyopathy: a genotype-phenotype characterization of familial disease.

Syrris P, Ward D, Asimaki A, Evans A, Sen-Chowdhry S, Hughes SE, McKenna WJ.

Eur Heart J. 2007 Mar;28(5):581-8. Epub 2006 Nov 14.

PubMed [citation]
PMID:
17105751

Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Desmosomal Variants Are Rarely De Novo.

van Lint FHM, Murray B, Tichnell C, Zwart R, Amat N, Lekanne Deprez RH, Dittmann S, Stallmeyer B, Calkins H, van der Smagt JJ, van den Wijngaard A, Dooijes D, van der Zwaag PA, Schulze-Bahr E, Judge DP, Jongbloed JDH, van Tintelen JP, James CA.

Circ Genom Precis Med. 2019 Aug;12(8):e002467. doi: 10.1161/CIRCGEN.119.002467. Epub 2019 Aug 6.

PubMed [citation]
PMID:
31386562
See all PubMed Citations (5)

Details of each submission

From OMIM, SCV000038583.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the trp305-to-ter (W305X) mutation in the DSG2 gene that was found in compound heterozygous state in a patient with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD10; 610193) by Awad et al. (2006), see 125671.0001.

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

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002232679.4

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

Description

This sequence change creates a premature translational stop signal (p.Trp306*) in the DSG2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DSG2 are known to be pathogenic (PMID: 17105751, 31386562). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with arrhythmogenic right ventricular dysplasia/cardiomyopathy (PMID: 16773573). This variant is also known as W305X. ClinVar contains an entry for this variant (Variation ID: 16811). For these reasons, this variant has been classified as Pathogenic.

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

From MGZ Medical Genetics Center, SCV002580542.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

From KardioGenetik, Herz- und Diabeteszentrum NRW, SCV004809101.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 22, 2025