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NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Aug 3, 2021)
Last evaluated:
Nov 11, 2020
Accession:
VCV000701986.6
Variation ID:
701986
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)

Allele ID
688906
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 29125688 (GRCh37) GRCh37 UCSC
18: 31545725 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_397:g.52484C>T
LRG_397t1:c.2339C>T
NC_000018.10:g.31545725C>T
... more HGVS
Protein change
A780V
Other names
-
Canonical SPDI
NC_000018.10:31545724:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00012
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00006
Exome Aggregation Consortium (ExAC) 0.00018
1000 Genomes Project 0.00080
Links
dbSNP: rs547406532
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 10, 2020 RCV001444786.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Mar 4, 2019 RCV000870771.3
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 11, 2020 RCV001170378.2
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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
Likely benign
(Jan 07, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001012314.1
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Apr 17, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario
Accession: SCV001332953.1
Submitted: (Mar 03, 2020)
Evidence details
Likely benign
(Jun 10, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001647797.1
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Nov 11, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001735609.1
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces alanine with valine at codon 780 of the DSG2 protein. Computational prediction is inconclusive regarding the impact of this variant on … (more)
Uncertain significance
(Mar 04, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001766042.1
Submitted: (Aug 03, 2021)
Evidence details
Comment:
In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28454995, 24238504)

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 rs547406532...

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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 23, 2021