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NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jun 11, 2021)
Last evaluated:
Jul 15, 2020
Accession:
VCV000036014.7
Variation ID:
36014
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)

Allele ID
44678
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31524751 (GRCh38) GRCh38 UCSC
18: 29104714 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000018.10:g.31524751A>T
NC_000018.9:g.29104714A>T
NM_001943.5:c.877A>T MANE Select NP_001934.2:p.Ile293Leu missense
... more HGVS
Protein change
I293L
Other names
p.I293L:ATA>TTA
Canonical SPDI
NC_000018.10:31524750:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.03235 (G)

Allele frequency
-
Links
ClinGen: CA022342
dbSNP: rs2230234
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 Mar 10, 2019 RCV000621307.1
Uncertain significance 1 criteria provided, single submitter Jul 15, 2020 RCV001184306.2
Uncertain significance 1 criteria provided, single submitter Mar 19, 2020 RCV001225861.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 11, 2016 RCV000212490.2
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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

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 04, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000233461.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Uncertain significance
(Mar 10, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736753.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.I293L variant (also known as c.877A>T), located in coding exon 8 of the DSG2 gene, results from an A to T substitution at nucleotide … (more)
Uncertain significance
(Jul 15, 2020)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001350254.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces isoleucine with leucine at codon 293 of the DSG2 protein. Computational prediction suggests that this variant may not impact protein structure … (more)
Uncertain significance
(Jul 11, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000697890.2
Submitted: (Apr 11, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: The DSG2 c.877A>T (p.Ile293Leu) variant causes a missense change involving a conserved nucleotide with 2/4 in silico tools (SNPs&GO not captured due to … (more)
Uncertain significance
(Mar 19, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001398155.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with leucine at codon 293 of the DSG2 protein (p.Ile293Leu). The isoleucine 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
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. Klauke B Human molecular genetics 2010 PMID: 20829228

Text-mined citations for rs2230234...

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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 Jun 19, 2021