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NM_001943.5(DSG2):c.2162A>G (p.His721Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jun 11, 2021)
Last evaluated:
Dec 14, 2020
Accession:
VCV000326483.7
Variation ID:
326483
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.2162A>G (p.His721Arg)

Allele ID
348190
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31542680 (GRCh38) GRCh38 UCSC
18: 29122643 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_397:g.49439A>G
NC_000018.10:g.31542680A>G
NC_000018.9:g.29122643A>G
... more HGVS
Protein change
H721R
Other names
-
Canonical SPDI
NC_000018.10:31542679:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA045031
dbSNP: rs756912703
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 14, 2016 RCV000265529.2
Uncertain significance 1 criteria provided, single submitter Jun 14, 2016 RCV000304243.2
Uncertain significance 1 criteria provided, single submitter Oct 15, 2020 RCV000804791.3
Uncertain significance 1 criteria provided, single submitter Dec 14, 2020 RCV001188866.2
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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
DSG2-AS1 - - - GRCh38 - 435

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Dilated Cardiomyopathy, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000408241.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy, ARVC
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000408242.2
Submitted: (Oct 18, 2016)
Evidence details
Uncertain significance
(Oct 15, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV000944718.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with arginine at codon 721 of the DSG2 protein (p.His721Arg). The histidine residue is weakly conserved and there is a … (more)
Uncertain significance
(Dec 14, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001356024.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces histidine with arginine at codon 721 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs756912703...

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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 Sep 29, 2021