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NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: May 19, 2020)
Last evaluated:
Dec 14, 2018
Accession:
VCV000199804.4
Variation ID:
199804
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)

Allele ID
197977
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31524763 (GRCh38) GRCh38 UCSC
18: 29104726 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31524763G>A
NC_000018.9:g.29104726G>A
NG_007072.3:g.31522G>A
... more HGVS
Protein change
D297N
Other names
p.D297N:GAT>AAT
Canonical SPDI
NC_000018.10:31524762:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA022349
dbSNP: rs751012696
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 18, 2017 RCV000181212.2
Uncertain significance 1 criteria provided, single submitter Jul 30, 2018 RCV000558472.2
Uncertain significance 1 criteria provided, single submitter Dec 14, 2018 RCV001189659.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DSG2 Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
638 1094

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 18, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000233490.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The D297N variant in the DSG2 gene has been reported in association with ARVC (Bhuiyan et al., 2009; Tan et al., 2010). Bhuiyan et al. … (more)
Uncertain significance
(Jul 30, 2018)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV000641997.2
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces aspartic acid with asparagine at codon 297 of the DSG2 protein (p.Asp297Asn). The aspartic acid residue is highly conserved and there … (more)
Uncertain significance
(Dec 14, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001356990.1
Submitted: (May 19, 2020)
Comment:
Variant of Uncertain Significance due to insufficient evidence: This missense variant is located in the extracellular cadherin domain 3 of the DSG2 protein. Computational prediction … (more)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. Tan BY Journal of cardiovascular translational research 2010 PMID: 20857253
Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. Bhuiyan ZA Circulation. Cardiovascular genetics 2009 PMID: 20031616

Text-mined citations for rs751012696...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 08, 2021