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NM_001943.5(DSG2):c.298G>C (p.Gly100Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 16, 2020
Accession:
VCV001006083.1
Variation ID:
1006083
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.298G>C (p.Gly100Arg)

Allele ID
998178
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31520884 (GRCh38) GRCh38 UCSC
18: 29100847 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31520884G>C
NC_000018.9:g.29100847G>C
NM_001943.5:c.298G>C MANE Select NP_001934.2:p.Gly100Arg missense
... more HGVS
Protein change
G100R
Other names
-
Canonical SPDI
NC_000018.10:31520883:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jun 16, 2020 RCV001303073.1
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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
(Jun 16, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001492307.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces glycine with arginine at codon 100 of the DSG2 protein (p.Gly100Arg). The glycine residue is highly conserved and there is a … (more)

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
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. Rigato I Circulation. Cardiovascular genetics 2013 PMID: 24070718
Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy. Pilichou K Circulation 2006 PMID: 16505173

Record last updated Mar 12, 2021