NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) AND not provided

Clinical significance:Pathogenic (Last evaluated: Apr 3, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000181240.2

Allele description [Variation Report for NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)]

NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)

Gene:
DSG2:desmoglein 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
18q12.1
Genomic location:
Preferred name:
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
HGVS:
  • NC_000018.10:g.31524703_31524714del
  • NG_007072.3:g.31462_31473del
  • LRG_397t1:c.829_840del
  • LRG_397:g.31462_31473del
  • NC_000018.9:g.29104666_29104677del
  • NM_001943.3:c.829_840delCTTGAAGGGATG
  • NM_001943.3:c.829_840delCTTGAAGGGATG
  • NM_001943.4:c.829_840del
  • p.L277_M280del
Links:
dbSNP: rs794728093
NCBI 1000 Genomes Browser:
rs794728093

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000233519GeneDxcriteria provided, single submitter
Pathogenic
(Apr 3, 2015)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000233519.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.829_840del12 mutation has been reported as a disease-causing mutation in association with ARVC (Syrris P et al., 2007, Asimaki A et al., 2009). This mutation was present in a parent and child, both of whom met Task Force criteria for the diagnosis of ARVC. Another child from this family with autopsy-confirmed ARVC also harbored this mutation (Syrris P et al., 2007). The mutation was absent from 200 ethnicity-matched control samples in this study. Furthermore, immunohistochemical analysis of cardiac tissue from autopsy in an individual with this mutation showed marked reduction in immunoreactivity for plakophilin2 and desmoplakin when compared to control tissue (Asimaki A et al., 2009). This mutation results in the deletion of 4 amino acids at the beginning of exon 8, that it is predicted to destroy the normal acceptor site of intron 7 and to create a cryptic splice acceptor site in exon 8. In addition, the NHLBI ESP Exome Variant Server reports c.829_840del12 was not observed in approximately 6,000 samples from individuals of European and African American backgrounds, indicating it is not a common benign variant in these populations. In summary, c.829_840del12 in the DSG2 gene is interpreted as a disease-causing mutation.

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

Last Updated: Jun 19, 2021

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