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DES, IVS3DS, A-G, +3

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Feb 5, 2015)
Last evaluated:
Jan 1, 2012
Accession:
VCV000016827.1
Variation ID:
16827
Description:
single nucleotide variant
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DES, IVS3DS, A-G, +3

Allele ID
31866
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
2q35
Genomic location
-
HGVS
-
Protein change
-
Other names
IVS3, A-G, +3
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 125660.0008
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Jan 1, 2012 RCV000018321.28
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DES - - GRCh38
GRCh37
569 607

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 01, 2012)
no assertion criteria provided
Method: literature only
MYOPATHY, MYOFIBRILLAR, 1
Allele origin: germline
OMIM
Accession: SCV000038600.3
Submitted: (Feb 05, 2015)
Evidence details
Publications
PubMed (3)

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
Etiology of limb girdle muscular dystrophy 1D/1E determined by laser capture microdissection proteomics. Greenberg SA Annals of neurology 2012 PMID: 22275259
Desmin splice variants causing cardiac and skeletal myopathy. Park KY Journal of medical genetics 2000 PMID: 11073539
Linkage of familial dilated cardiomyopathy with conduction defect and muscular dystrophy to chromosome 6q23. Messina DN American journal of human genetics 1997 PMID: 9382102

Record last updated Oct 08, 2021