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NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 25, 2021)
Last evaluated:
Aug 23, 2021
Accession:
VCV000199832.7
Variation ID:
199832
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly)

Allele ID
197995
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31545746 (GRCh38) GRCh38 UCSC
18: 29125709 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31545746A>G
NC_000018.9:g.29125709A>G
NG_007072.3:g.52505A>G
... more HGVS
Protein change
D787G
Other names
p.D787G:GAT>GGT
Canonical SPDI
NC_000018.10:31545745:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00012
The Genome Aggregation Database (gnomAD) 0.00019
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA021762
dbSNP: rs369868954
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 Aug 23, 2021 RCV000181251.3
Uncertain significance 1 criteria provided, single submitter Oct 25, 2020 RCV000642314.4
Likely benign 1 criteria provided, single submitter Nov 14, 2019 RCV001184497.1
Uncertain significance 1 criteria provided, single submitter Nov 18, 2019 RCV001193616.1
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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
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
(Aug 23, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000233530.11
Submitted: (Sep 25, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar (ClinVar Variant ID# 199832; Landrum et al., 2016); In silico … (more)
Likely benign
(Nov 14, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001350476.1
Submitted: (May 19, 2020)
Evidence details
Uncertain significance
(Nov 18, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001362565.1
Submitted: (Mar 06, 2020)
Evidence details
Comment:
Variant summary: DSG2 c.2360A>G (p.Asp787Gly) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a damaging … (more)
Uncertain significance
(Oct 25, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV000763983.4
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with glycine at codon 787 of the DSG2 protein (p.Asp787Gly). The aspartic acid residue is highly conserved and there … (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 rs369868954...

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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