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NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 1, 2020
Accession:
VCV000252596.5
Variation ID:
252596
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)

Allele ID
247150
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31524835 (GRCh38) GRCh38 UCSC
18: 29104798 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_397t1:c.961T>A
LRG_397:g.31594T>A
NC_000018.10:g.31524835T>A
... more HGVS
Protein change
F321I
Other names
-
Canonical SPDI
NC_000018.10:31524834:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00006
Trans-Omics for Precision Medicine (TOPMed) 0.00006
The Genome Aggregation Database (gnomAD), exomes 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00017
Links
ClinGen: CA050538
dbSNP: rs201040643
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 Oct 20, 2015 RCV000238845.1
Uncertain significance 1 criteria provided, single submitter Apr 18, 2017 RCV000426540.1
Uncertain significance 1 criteria provided, single submitter May 16, 2019 RCV001184545.1
Uncertain significance 1 criteria provided, single submitter Oct 1, 2020 RCV001234222.2
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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
Uncertain significance
(Oct 20, 2015)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000297110.2
Submitted: (Jan 06, 2016)
Evidence details
Uncertain significance
(Apr 18, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000520832.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The F321I variant of uncertain significance in the DSG2 gene has previously been reported in one individual meeting diagnostic criteria for ARVC, however, family history … (more)
Uncertain significance
(May 16, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001350554.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces phenylalanine with isoleucine at codon 321 of the DSG2 protein. Computational prediction tools and conservation analyses suggest that this variant may … (more)
Evidence details
Uncertain significance
(Oct 01, 2020)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV001406855.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces phenylalanine with isoleucine at codon 321 of the DSG2 protein (p.Phe321Ile). The phenylalanine 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 contributes to arrhythmogenic right ventricular cardiomyopathy. Xu T Journal of the American College of Cardiology 2010 PMID: 20152563

Text-mined citations for rs201040643...

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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