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NM_001927.4(DES):c.1034T>C (p.Leu345Pro)

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Interpretation:
Pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Jan 3, 2020
Accession:
VCV000016825.5
Variation ID:
16825
Description:
single nucleotide variant
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NM_001927.4(DES):c.1034T>C (p.Leu345Pro)

Allele ID
31864
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q35
Genomic location
2: 219421350 (GRCh38) GRCh38 UCSC
2: 220286072 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P17661:p.Leu345Pro
NC_000002.11:g.220286072T>C
NC_000002.12:g.219421350T>C
... more HGVS
Protein change
L345P
Other names
-
Canonical SPDI
NC_000002.12:219421349:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA217003
UniProtKB: P17661#VAR_009189
OMIM: 125660.0006
dbSNP: rs57639980
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 3 criteria provided, multiple submitters, no conflicts Jan 3, 2020 RCV000056765.3
Pathogenic 1 criteria provided, single submitter Sep 17, 2019 RCV001044194.2
Pathogenic 1 no assertion criteria provided Nov 1, 1999 RCV000018319.29
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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
(Jul 17, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000841804.1
Submitted: (Aug 31, 2018)
Evidence details
Publications
PubMed (7)
Pathogenic
(Jan 03, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV001433465.1
Submitted: (Jul 24, 2020)
Evidence details
Pathogenic
(Sep 17, 2019)
criteria provided, single submitter
Method: clinical testing
Muscular dystrophy, limb-girdle, type 2R
Myofibrillar myopathy 1
Allele origin: germline
Invitae
Accession: SCV001207976.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces leucine with proline at codon 345 of the DES protein (p.Leu345Pro). The leucine residue is highly conserved and there is a … (more)
Pathogenic
(Nov 01, 1999)
no assertion criteria provided
Method: literature only
MYOPATHY, MYOFIBRILLAR, 1
Allele origin: germline
OMIM
Accession: SCV000038598.3
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (2)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
Epithelial Biology; Institute of Medical Biology, Singapore
Accession: SCV000087878.1
Submitted: (Jul 31, 2012)
Evidence details

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
Aggregate-prone desmin mutations impair mitochondrial calcium uptake in primary myotubes. Smolina N Cell calcium 2014 PMID: 25171807
High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study. Wahbi K Neuromuscular disorders : NMD 2012 PMID: 22153487
Mice expressing L345P mutant desmin exhibit morphological and functional changes of skeletal and cardiac mitochondria. Kostareva A Journal of muscle research and cell motility 2008 PMID: 18563598
Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages. Bär H Proceedings of the National Academy of Sciences of the United States of America 2005 PMID: 16217025
Cytoskeletal derangements in hereditary myopathy with a desmin L345P mutation. Carlsson L Acta neuropathologica 2002 PMID: 12410397
A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Sjöberg G Human molecular genetics 1999 PMID: 10545598
Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Horowitz SH Muscle & nerve 1994 PMID: 8114783

Text-mined citations for rs57639980...

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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