NC_000018.9:g.(?_29099325)_(29099910_?)del AND Arrhythmogenic right ventricular dysplasia 10

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Apr 16, 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:: RCV002006876.7

Allele description [Variation Report for NC_000018.9:g.(?_29099325)_(29099910_?)del]

NC_000018.9:g.(?_29099325)_(29099910_?)del

Gene:: DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:: Deletion
Cytogenetic location:: 18q12.1
Genomic location:: Chr18: 29099325 - 29099910 (on Assembly GRCh37)
Preferred name:: NC_000018.9:g.(?_29099325)_(29099910_?)del
HGVS:: NC_000018.9:g.(?_29099325)_(29099910_?)del
This HGVS expression did not pass validation

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002293793	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely pathogenic (Apr 16, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 19151369, 28472724, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002293793

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely pathogenic
(Apr 16, 2021)

germline

clinical testing

PubMed (3)
[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

Sporadic arrhythmogenic right ventricular cardiomyopathy/dysplasia due to a de novo mutation.

Gandjbakhch E, Fressart V, Bertaux G, Faivre L, Simon F, Frank R, Fontaine G, Villard E, Coirault C, Hainque B, Charron P.

Europace. 2009 Mar;11(3):379-81. doi: 10.1093/europace/eun378. Epub 2009 Jan 16.

PubMed [citation]

PMID:: 19151369

Relevance of molecular testing in patients with a family history of sudden death.

Kauferstein S, Herz N, Scheiper S, Biel S, Jenewein T, Kunis M, Erkapic D, Beckmann BM, Neumann T.

Forensic Sci Int. 2017 Jul;276:18-23. doi: 10.1016/j.forsciint.2017.04.001. Epub 2017 Apr 13.

PubMed [citation]

PMID:: 28472724

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002293793.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.Arg49 amino acid residue in DSG2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19151369, 28472724). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has not been reported in the literature in individuals with DSG2-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the DSG2 gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame.

#	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: May 16, 2025

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