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NM_001943.5(DSG2):c.2006T>A (p.Val669Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 20, 2019
Accession:
VCV000576360.4
Variation ID:
576360
Description:
single nucleotide variant
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NM_001943.5(DSG2):c.2006T>A (p.Val669Glu)

Allele ID
572620
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
18q12.1
Genomic location
18: 31542524 (GRCh38) GRCh38 UCSC
18: 29122487 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_397t1:c.2006T>A
LRG_397:g.49283T>A
NC_000018.10:g.31542524T>A
... more HGVS
Protein change
V669E
Other names
-
Canonical SPDI
NC_000018.10:31542523:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1036247495
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 May 8, 2019 RCV000698840.3
Uncertain significance 1 criteria provided, single submitter Jul 20, 2019 RCV001187930.1
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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
(Jul 20, 2019)
criteria provided, single submitter
Method: clinical testing
Cardiomyopathy
Allele origin: germline
Color Health, Inc
Accession: SCV001354868.1
Submitted: (May 19, 2020)
Comment:
This missense variant replaces valine with glutamic acid at codon 669 of the DSG2 protein. Computational prediction tools and conservation analyses are inconclusive regarding the … (more)
Evidence details
Uncertain significance
(May 08, 2019)
criteria provided, single submitter
Method: clinical testing
Arrhythmogenic right ventricular cardiomyopathy, type 10
Allele origin: germline
Invitae
Accession: SCV000827529.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with glutamic acid at codon 669 of the DSG2 protein (p.Val669Glu). The valine residue is moderately conserved and there is … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1036247495...

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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