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NM_001927.4(DES):c.735+1G>C

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Mar 21, 2019)
Last evaluated:
Mar 5, 2014
Accession:
VCV000163027.1
Variation ID:
163027
Description:
single nucleotide variant
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NM_001927.4(DES):c.735+1G>C

Allele ID
173632
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219420347 (GRCh38) GRCh38 UCSC
2: 220285069 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.220285069G>C
NC_000002.12:g.219420347G>C
NM_001927.4:c.735+1G>C MANE Select splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000002.12:219420346:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA273134
dbSNP: rs397516698
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 5, 2014 RCV000150381.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely pathogenic
(Mar 05, 2014)
criteria provided, single submitter
Method: clinical testing
Myofibrillar myopathy 1
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000197523.4
Submitted: (Mar 21, 2019)
Evidence details
Publications
PubMed (3)
Comment:
The 735+1G>C variant in DES has not been previously reported in individuals with cardiomyopathy or in large population studies. This variant occurs in the invar … (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
Diagnostic challenge in desmin cardiomyopathy with transformation of clinical phenotypes. Gudkova A Pediatric cardiology 2013 PMID: 22484823
Desmin myopathy. Goldfarb LG Brain : a journal of neurology 2004 PMID: 14724127
Desmin splice variants causing cardiac and skeletal myopathy. Park KY Journal of medical genetics 2000 PMID: 11073539

Text-mined citations for rs397516698...

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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 Jul 07, 2021