NM_001943.5(DSG2):c.1433dup (p.Thr480fs) AND Arrhythmogenic right ventricular dysplasia 10

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 27, 2022
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:: RCV002601835.4

Allele description [Variation Report for NM_001943.5(DSG2):c.1433dup (p.Thr480fs)]

NM_001943.5(DSG2):c.1433dup (p.Thr480fs)

Gene:

DSG2:desmoglein 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

18q12.1

Genomic location:

Preferred name:

NM_001943.5(DSG2):c.1433dup (p.Thr480fs)

HGVS:

NC_000018.10:g.31536211dup
NG_007072.3:g.42970dup
NM_001943.5:c.1433dupMANE SELECT
NP_001934.2:p.Thr480Asnfs
NP_001934.2:p.Thr480fs
LRG_397t1:c.1433dup
LRG_397:g.42970dup
LRG_397p1:p.Thr480Asnfs
NC_000018.10:g.31536211_31536212insG
NC_000018.9:g.29116173_29116174insG
NC_000018.9:g.29116174dup
NM_001943.3:c.1433dup

Protein change:

T480fs

Molecular consequence:

NM_001943.5:c.1433dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Arrhythmogenic right ventricular dysplasia 10
Synonyms:: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10; Arrhythmogenic right ventricular cardiomyopathy, type 10; Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012434; MedGen: C1857777; OMIM: 610193

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002952712	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Jul 27, 2022)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 31638835, 17105751, 31386562, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002952712

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Jul 27, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Prevalence and Electronic Health Record-Based Phenotype of Loss-of-Function Genetic Variants in Arrhythmogenic Right Ventricular Cardiomyopathy-Associated Genes.

Carruth ED, Young W, Beer D, James CA, Calkins H, Jing L, Raghunath S, Hartzel DN, Leader JB, Kirchner HL, Smelser DT, Carey DJ, Kelly MA, Sturm AC, Alsaid A, Fornwalt BK, Haggerty CM.

Circ Genom Precis Med. 2019 Nov;12(11):e002579. doi: 10.1161/CIRCGEN.119.002579. Epub 2019 Oct 22.

PubMed [citation]

PMID:: 31638835
PMCID:: PMC6876858

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

See all PubMed Citations (4)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002952712.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with DSG2-related conditions (PMID: 31638835). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Thr480Asnfs*11) 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 16, 2025

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